ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201733318_201733319del , CM000664.2:g.201733318_201733319del | GRCh38 |
| NC_000002.11:g.202598041_202598042del , CM000664.1:g.202598041_202598042del | GRCh37 |
| NC_000002.10:g.202306286_202306287del | NCBI36 |
| NG_008775.1:g.52854_52855del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.2537_2538del MANE Select | ENSP00000264276.6:p.Asn846IlefsTer13 | |
| ENST00000439495.6:c.215_216del | ENSP00000403832.2:p.Asn72IlefsTer13 | |
| ENST00000482789.6:n.2879_2880del | ||
| ENST00000482891.6:n.2879_2880del | ||
| ENST00000494017.6:n.269_270del | ||
| ENST00000679409.1:c.215_216del | ENSP00000506531.1:p.Asn72IlefsTer13 | |
| ENST00000679416.1:n.2879_2880del | ||
| ENST00000679435.1:c.2537_2538del | ENSP00000505218.1:p.Asn846IlefsTer13 | |
| ENST00000679516.1:c.2537_2538del | ENSP00000505187.1:p.Asn846IlefsTer13 | |
| ENST00000679618.1:c.2537_2538del | ENSP00000506274.1:p.Asn846IlefsTer13 | |
| ENST00000679630.1:n.2879_2880del | ||
| ENST00000679686.1:n.2651_2652del | ||
| ENST00000679701.1:n.2879_2880del | ||
| ENST00000679916.1:c.2537_2538del | ENSP00000506172.1:p.Asn846IlefsTer13 | |
| ENST00000680000.1:c.2537_2538del | ENSP00000506173.1:p.Asn846IlefsTer13 | |
| ENST00000680135.1:c.*501_*502del | ENSP00000506211.1:n.*501_*502del | |
| ENST00000680149.1:c.2537_2538del | ENSP00000506497.1:p.Asn846IlefsTer13 | |
| ENST00000680163.1:c.2537_2538del | ENSP00000505092.1:p.Asn846IlefsTer13 | |
| ENST00000680174.1:n.2817_2818del | ||
| ENST00000680236.1:c.2537_2538del | ENSP00000506212.1:p.Asn846IlefsTer13 | |
| ENST00000680497.1:c.2639_2640del | ENSP00000505954.1:p.Asn880IlefsTer13 | |
| ENST00000680508.1:c.2537_2538del | ENSP00000505749.1:p.Asn846IlefsTer13 | |
| ENST00000680569.1:c.*248_*249del | ENSP00000505522.1:n.*248_*249del | |
| ENST00000680630.1:n.2969_2970del | ||
| ENST00000680634.1:n.20+5708_20+5709del | ||
| ENST00000680723.1:n.670_671del | ||
| ENST00000680726.1:c.2537_2538del | ENSP00000505505.1:p.Asn846IlefsTer13 | |
| ENST00000680737.1:n.2879_2880del | ||
| ENST00000680759.1:c.2537_2538del | ENSP00000505848.1:p.Asn846IlefsTer13 | |
| ENST00000680814.1:c.2537_2538del | ENSP00000505710.1:p.Asn846IlefsTer13 | |
| ENST00000680828.1:c.*109_*110del | ENSP00000505249.1:n.*109_*110del | |
| ENST00000680861.1:c.2537_2538del | ENSP00000505043.1:p.Asn846IlefsTer13 | |
| ENST00000680927.1:c.2537_2538del | ENSP00000505473.1:p.Asn846IlefsTer13 | |
| ENST00000680939.1:n.2879_2880del | ||
| ENST00000681152.1:c.2537_2538del | ENSP00000505388.1:p.Asn846IlefsTer13 | |
| ENST00000681250.1:c.1472-7865_1472-7864del | ENSP00000505684.1:n.1472-7865_1472-7864del | |
| ENST00000681256.1:c.*129_*130del | ENSP00000505446.1:n.*129_*130del | |
| ENST00000681279.1:n.2879_2880del | ||
| ENST00000681303.1:c.2537_2538del | ENSP00000505576.1:p.Asn846IlefsTer13 | |
| ENST00000681307.1:n.2879_2880del | ||
| ENST00000681461.1:n.2879_2880del | ||
| ENST00000681495.1:c.215_216del | ENSP00000506085.1:p.Asn72IlefsTer13 | |
| ENST00000681558.1:c.215_216del | ENSP00000505568.1:p.Asn72IlefsTer13 | |
| ENST00000681619.1:c.2537_2538del | ENSP00000505071.1:p.Asn846IlefsTer13 | |
| ENST00000681716.1:c.*248_*249del | ENSP00000505078.1:n.*248_*249del | |
| ENST00000681758.1:n.2879_2880del | ||
| ENST00000681768.1:c.*201_*202del | ENSP00000506311.1:n.*201_*202del | |
| ENST00000681808.1:c.2537_2538del | ENSP00000505219.1:p.Asn846IlefsTer13 | |
| ENST00000264276.10:c.2537_2538del | ENSP00000264276.6:p.Asn846IlefsTer13 | |
| ENST00000439495.5:c.498_499del | ||
| ENST00000482891.5:n.2677_2678del | ||
| ENST00000483703.1:n.307_308del | ||
| ENST00000494017.5:n.135_136del | ||
| NM_020919.3:c.2537_2538del | NP_065970.2:p.Asn846IlefsTer13 | |
| XM_005246709.2:c.2537_2538del | XP_005246766.1:p.Asn846IlefsTer13 | |
| XM_006712654.1:c.2537_2538del | XP_006712717.1:p.Asn846IlefsTer13 | |
| XM_006712655.2:c.473_474del | XP_006712718.1:p.Asn158IlefsTer13 | |
| XM_011511530.1:c.2198_2199del | XP_011509832.1:p.Asn733IlefsTer13 | |
| XM_011511531.1:c.2537_2538del | XP_011509833.1:p.Asn846IlefsTer13 | |
| XR_922974.1:n.2672_2673del | ||
| XM_006712654.3:c.2537_2538del | XP_006712717.1:p.Asn846IlefsTer13 | |
| XM_006712655.3:c.473_474del | XP_006712718.1:p.Asn158IlefsTer13 | |
| XM_017004569.2:c.2537_2538del | XP_016860058.1:p.Asn846IlefsTer13 | |
| XM_017004570.2:c.2537_2538del | XP_016860059.1:p.Asn846IlefsTer13 | |
| XM_017004572.2:c.155_156del | XP_016860061.1:p.Asn52IlefsTer13 | |
| XM_024453024.1:c.2198_2199del | XP_024308792.1:p.Asn733IlefsTer13 | |
| XM_024453025.1:c.473_474del | XP_024308793.1:p.Asn158IlefsTer13 | |
| XR_001738864.2:n.2672_2673del | ||
| XR_001738865.2:n.2672_2673del | ||
| XR_001738866.2:n.2672_2673del | ||
| XR_001738867.2:n.2672_2673del | ||
| XR_002959320.1:n.1728_1729del | ||
| NM_020919.4:c.2537_2538del MANE Select | NP_065970.2:p.Asn846IlefsTer13 |