Linked Data
gnomAD v3:
2-201284668-CGGGGAGAGGGAGAGGGAGA-C
gnomAD v4:
2-201284668-CGGGGAGAGGGAGAGGGAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201284672_201284690del , CM000664.2:g.201284672_201284690del | GRCh38 |
| NC_000002.11:g.202149395_202149413del , CM000664.1:g.202149395_202149413del | GRCh37 |
| NC_000002.10:g.201857640_201857658del | NCBI36 |
| NG_007497.1:g.56215_56233del , LRG_34:g.56215_56233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413726.6:c.803-144_803-126del | ENSP00000397528.2:n.803-144_803-126del | |
| ENST00000440732.6:c.803-144_803-126del | ENSP00000396869.2:n.803-144_803-126del | |
| ENST00000444430.3:c.551-144_551-126del | ENSP00000394434.3:n.551-144_551-126del | |
| ENST00000450491.6:c.449-144_449-126del | ENSP00000391709.2:n.449-144_449-126del | |
| ENST00000696067.1:c.803-144_803-126del | ENSP00000512369.1:n.803-144_803-126del | |
| ENST00000696068.1:c.*30-144_*30-126del | ENSP00000512370.1:n.*30-144_*30-126del | |
| ENST00000696069.1:c.758-144_758-126del | ENSP00000512371.1:n.758-144_758-126del | |
| ENST00000696085.1:c.935-144_935-126del | ENSP00000512381.1:n.935-144_935-126del | |
| ENST00000696087.1:c.758-144_758-126del | ENSP00000512382.1:n.758-144_758-126del | |
| ENST00000673742.1:c.803-144_803-126del MANE Select | ENSP00000501268.1:n.803-144_803-126del | |
| ENST00000264274.13:c.551-144_551-126del | ENSP00000264274.9:n.551-144_551-126del | |
| ENST00000264275.9:c.854-144_854-126del | ENSP00000264275.5:n.854-144_854-126del | |
| ENST00000323492.11:c.758-144_758-126del | ENSP00000325722.7:n.758-144_758-126del | |
| ENST00000339403.6:n.1024-144_1024-126del | ||
| ENST00000358485.8:c.980-144_980-126del | ENSP00000351273.4:n.980-144_980-126del | |
| ENST00000392263.6:c.758-144_758-126del | ENSP00000376091.2:n.758-144_758-126del | |
| ENST00000432109.6:c.803-144_803-126del | ENSP00000412523.2:n.803-144_803-126del | |
| ENST00000444430.2:c.140-144_140-126del | ENSP00000394434.2:n.140-144_140-126del | |
| NM_001080124.1:c.758-144_758-126del | NP_001073593.1:n.758-144_758-126del | |
| NM_001080125.1:c.980-144_980-126del | NP_001073594.1:n.980-144_980-126del | |
| NM_001228.4:c.854-144_854-126del , LRG_34t1:c.854-144_854-126del | NP_001219.2:n.854-144_854-126del | |
| NM_033355.3:c.803-144_803-126del , LRG_34t2:c.803-144_803-126del | NP_203519.1:n.803-144_803-126del | |
| NM_033356.3:c.758-144_758-126del | NP_203520.1:n.758-144_758-126del | |
| NR_111983.1:n.1317-144_1317-126del | ||
| XM_005246885.1:c.935-144_935-126del | XP_005246942.1:n.935-144_935-126del | |
| XM_005246886.1:c.803-144_803-126del | XP_005246943.1:n.803-144_803-126del | |
| XM_005246887.1:c.803-144_803-126del | XP_005246944.1:n.803-144_803-126del | |
| XM_005246888.1:c.803-144_803-126del | XP_005246945.1:n.803-144_803-126del | |
| XM_005246889.1:c.803-144_803-126del | XP_005246946.1:n.803-144_803-126del | |
| XM_005246890.2:c.803-144_803-126del | XP_005246947.1:n.803-144_803-126del | |
| XM_005246891.3:c.803-144_803-126del | XP_005246948.1:n.803-144_803-126del | |
| XM_005246892.1:c.758-144_758-126del | XP_005246949.1:n.758-144_758-126del | |
| XM_005246893.2:c.*30-144_*30-126del | XP_005246950.1:n.*30-144_*30-126del | |
| XM_005246894.2:c.206-144_206-126del | XP_005246951.1:n.206-144_206-126del | |
| XM_005246895.2:c.*30-144_*30-126del | XP_005246952.1:n.*30-144_*30-126del | |
| XM_006712789.1:c.803-144_803-126del | XP_006712852.1:n.803-144_803-126del | |
| XM_006712790.2:c.803-144_803-126del | XP_006712853.1:n.803-144_803-126del | |
| XM_006712791.1:c.728-144_728-126del | XP_006712854.1:n.728-144_728-126del | |
| XM_006712793.2:c.*30-144_*30-126del | XP_006712856.1:n.*30-144_*30-126del | |
| XM_011511969.1:c.368-144_368-126del | XP_011510271.1:n.368-144_368-126del | |
| XR_923035.1:n.1072-144_1072-126del | ||
| XM_005246885.2:c.935-144_935-126del | XP_005246942.1:n.935-144_935-126del | |
| XM_005246886.2:c.803-144_803-126del | XP_005246943.1:n.803-144_803-126del | |
| XM_005246887.2:c.803-144_803-126del | XP_005246944.1:n.803-144_803-126del | |
| XM_005246888.2:c.803-144_803-126del | XP_005246945.1:n.803-144_803-126del | |
| XM_005246889.2:c.803-144_803-126del | XP_005246946.1:n.803-144_803-126del | |
| XM_005246890.4:c.803-144_803-126del | XP_005246947.1:n.803-144_803-126del | |
| XM_005246891.5:c.803-144_803-126del | XP_005246948.1:n.803-144_803-126del | |
| XM_005246892.2:c.758-144_758-126del | XP_005246949.1:n.758-144_758-126del | |
| XM_005246893.3:c.*30-144_*30-126del | XP_005246950.1:n.*30-144_*30-126del | |
| XM_005246894.4:c.206-144_206-126del | XP_005246951.1:n.206-144_206-126del | |
| XM_005246895.3:c.*30-144_*30-126del | XP_005246952.1:n.*30-144_*30-126del | |
| XM_006712789.2:c.803-144_803-126del | XP_006712852.1:n.803-144_803-126del | |
| XM_006712790.4:c.803-144_803-126del | XP_006712853.1:n.803-144_803-126del | |
| XM_006712793.3:c.*30-144_*30-126del | XP_006712856.1:n.*30-144_*30-126del | |
| XM_011511969.2:c.368-144_368-126del | XP_011510271.1:n.368-144_368-126del | |
| XR_001738971.1:n.1150-144_1150-126del | ||
| NM_001080124.2:c.758-144_758-126del | NP_001073593.1:n.758-144_758-126del | |
| NM_001080125.2:c.980-144_980-126del | NP_001073594.1:n.980-144_980-126del | |
| NM_001372051.1:c.803-144_803-126del MANE Select | NP_001358980.1:n.803-144_803-126del | |
| NM_033356.4:c.758-144_758-126del | NP_203520.1:n.758-144_758-126del | |
| NR_111983.2:n.1313-144_1313-126del | ||
| NM_001400642.1:c.935-144_935-126del | NP_001387571.1:n.935-144_935-126del | |
| NM_001400645.1:c.836-144_836-126del | NP_001387574.1:n.836-144_836-126del | |
| NM_001400648.1:c.803-144_803-126del | NP_001387577.1:n.803-144_803-126del | |
| NM_001400651.1:c.803-144_803-126del | NP_001387580.1:n.803-144_803-126del | |
| NM_001400653.1:c.803-144_803-126del | NP_001387582.1:n.803-144_803-126del | |
| NM_001400654.1:c.803-144_803-126del | NP_001387583.1:n.803-144_803-126del | |
| NM_001400655.1:c.803-144_803-126del | NP_001387584.1:n.803-144_803-126del | |
| NM_001400656.1:c.803-144_803-126del | NP_001387585.1:n.803-144_803-126del | |
| NM_001400657.1:c.803-144_803-126del | NP_001387586.1:n.803-144_803-126del | |
| NM_001400658.1:c.758-144_758-126del | NP_001387587.1:n.758-144_758-126del | |
| NM_001400659.1:c.758-144_758-126del | NP_001387588.1:n.758-144_758-126del | |
| NM_001400660.1:c.758-144_758-126del | NP_001387589.1:n.758-144_758-126del | |
| NM_001400661.1:c.758-144_758-126del | NP_001387590.1:n.758-144_758-126del | |
| NM_001400662.1:c.758-144_758-126del | NP_001387591.1:n.758-144_758-126del | |
| NM_001400663.1:c.758-144_758-126del | NP_001387592.1:n.758-144_758-126del | |
| NM_001400664.1:c.734-144_734-126del | NP_001387593.1:n.734-144_734-126del | |
| NM_001400665.1:c.728-144_728-126del | NP_001387594.1:n.728-144_728-126del | |
| NM_001400666.1:c.596-144_596-126del | NP_001387595.1:n.596-144_596-126del | |
| NM_001400667.1:c.551-144_551-126del | NP_001387596.1:n.551-144_551-126del | |
| NM_001400668.1:c.551-144_551-126del | NP_001387597.1:n.551-144_551-126del | |
| NM_001400669.1:c.494-144_494-126del | NP_001387598.1:n.494-144_494-126del | |
| NM_001400670.1:c.803-591_803-573del | NP_001387599.1:n.803-591_803-573del | |
| NM_001400671.1:c.206-144_206-126del | NP_001387600.1:n.206-144_206-126del | |
| NM_001400672.1:c.206-144_206-126del | NP_001387601.1:n.206-144_206-126del | |
| NM_001400673.1:c.206-144_206-126del | NP_001387602.1:n.206-144_206-126del | |
| NM_001400674.1:c.188-144_188-126del | NP_001387603.1:n.188-144_188-126del | |
| NM_001400675.1:c.161-144_161-126del | NP_001387604.1:n.161-144_161-126del | |
| NM_001400676.1:c.161-144_161-126del | NP_001387605.1:n.161-144_161-126del | |
| NM_001400677.1:c.161-144_161-126del | NP_001387606.1:n.161-144_161-126del | |
| NM_001400678.1:c.161-144_161-126del | NP_001387607.1:n.161-144_161-126del | |
| NM_001400680.1:c.188-144_188-126del | NP_001387609.1:n.188-144_188-126del | |
| NM_001400750.1:c.206-144_206-126del | NP_001387679.1:n.206-144_206-126del | |
| NM_001400751.1:c.161-144_161-126del | NP_001387680.1:n.161-144_161-126del | |
| NR_174564.1:n.892-144_892-126del | ||
| NR_174565.1:n.1022-144_1022-126del | ||
| NR_174581.1:n.1048-144_1048-126del | ||
| NR_174583.1:n.1154-144_1154-126del | ||
| NR_174584.1:n.1067-144_1067-126del | ||
| NR_174585.1:n.1085-144_1085-126del | ||
| NR_174586.1:n.1059-144_1059-126del | ||
| NR_174588.1:n.1222-144_1222-126del | ||
| NR_174589.1:n.1017-144_1017-126del | ||
| NR_174590.1:n.1109-144_1109-126del | ||
| NR_174591.1:n.1040-144_1040-126del | ||
| NR_174592.1:n.1385-144_1385-126del | ||
| NR_174593.1:n.1183-144_1183-126del | ||
| NR_174594.1:n.1226-144_1226-126del | ||
| NR_174595.1:n.1141-144_1141-126del | ||
| NR_174596.1:n.978-144_978-126del | ||
| NR_174598.1:n.1336-144_1336-126del | ||
| NR_174599.1:n.720-144_720-126del | ||
| NR_174600.1:n.1248-144_1248-126del | ||
| NR_174601.1:n.1173-144_1173-126del | ||
| NR_174602.1:n.1043-144_1043-126del |