Linked Data
dbSNP Id:
rs1690949209
gnomAD v3:
2-201723477-AGATAAG-A
gnomAD v4:
2-201723477-AGATAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201723483_201723488del , CM000664.2:g.201723483_201723488del | GRCh38 |
| NC_000002.11:g.202588206_202588211del , CM000664.1:g.202588206_202588211del | GRCh37 |
| NC_000002.10:g.202296451_202296456del | NCBI36 |
| NG_008775.1:g.62690_62695del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.3513-42_3513-37del MANE Select | ENSP00000264276.6:n.3513-42_3513-37del | |
| ENST00000439495.6:c.1191-42_1191-37del | ENSP00000403832.2:n.1191-42_1191-37del | |
| ENST00000482891.6:n.4281-42_4281-37del | ||
| ENST00000494017.6:n.1245-42_1245-37del | ||
| ENST00000679409.1:c.1191-42_1191-37del | ENSP00000506531.1:n.1191-42_1191-37del | |
| ENST00000679416.1:n.5017-42_5017-37del | ||
| ENST00000679435.1:c.3513-42_3513-37del | ENSP00000505218.1:n.3513-42_3513-37del | |
| ENST00000679516.1:c.3513-42_3513-37del | ENSP00000505187.1:n.3513-42_3513-37del | |
| ENST00000679618.1:c.*601-42_*601-37del | ENSP00000506274.1:n.*601-42_*601-37del | |
| ENST00000679630.1:n.5362-42_5362-37del | ||
| ENST00000679686.1:n.3627-42_3627-37del | ||
| ENST00000679701.1:n.6505-42_6505-37del | ||
| ENST00000679916.1:c.3513-42_3513-37del | ENSP00000506172.1:n.3513-42_3513-37del | |
| ENST00000680000.1:c.3513-42_3513-37del | ENSP00000506173.1:n.3513-42_3513-37del | |
| ENST00000680135.1:c.*1477-42_*1477-37del | ENSP00000506211.1:n.*1477-42_*1477-37del | |
| ENST00000680149.1:c.3513-42_3513-37del | ENSP00000506497.1:n.3513-42_3513-37del | |
| ENST00000680163.1:c.3513-42_3513-37del | ENSP00000505092.1:n.3513-42_3513-37del | |
| ENST00000680174.1:n.4204-42_4204-37del | ||
| ENST00000680236.1:c.*574-42_*574-37del | ENSP00000506212.1:n.*574-42_*574-37del | |
| ENST00000680497.1:c.3615-42_3615-37del | ENSP00000505954.1:n.3615-42_3615-37del | |
| ENST00000680508.1:c.3513-42_3513-37del | ENSP00000505749.1:n.3513-42_3513-37del | |
| ENST00000680569.1:c.*1224-42_*1224-37del | ENSP00000505522.1:n.*1224-42_*1224-37del | |
| ENST00000680630.1:n.3945-42_3945-37del | ||
| ENST00000680634.1:n.21-2994_21-2989del | ||
| ENST00000680722.1:n.1313-42_1313-37del | ||
| ENST00000680723.1:n.4296-42_4296-37del | ||
| ENST00000680726.1:c.3513-42_3513-37del | ENSP00000505505.1:n.3513-42_3513-37del | |
| ENST00000680737.1:n.3784-42_3784-37del | ||
| ENST00000680759.1:c.3513-42_3513-37del | ENSP00000505848.1:n.3513-42_3513-37del | |
| ENST00000680814.1:c.3513-42_3513-37del | ENSP00000505710.1:n.3513-42_3513-37del | |
| ENST00000680828.1:c.*1085-42_*1085-37del | ENSP00000505249.1:n.*1085-42_*1085-37del | |
| ENST00000680861.1:c.3513-42_3513-37del | ENSP00000505043.1:n.3513-42_3513-37del | |
| ENST00000680927.1:c.3513-42_3513-37del | ENSP00000505473.1:n.3513-42_3513-37del | |
| ENST00000680939.1:n.3855-42_3855-37del | ||
| ENST00000681152.1:c.3513-42_3513-37del | ENSP00000505388.1:n.3513-42_3513-37del | |
| ENST00000681250.1:c.*230-42_*230-37del | ENSP00000505684.1:n.*230-42_*230-37del | |
| ENST00000681256.1:c.*1531-42_*1531-37del | ENSP00000505446.1:n.*1531-42_*1531-37del | |
| ENST00000681279.1:n.4281-42_4281-37del | ||
| ENST00000681303.1:c.3513-42_3513-37del | ENSP00000505576.1:n.3513-42_3513-37del | |
| ENST00000681307.1:n.4626-42_4626-37del | ||
| ENST00000681461.1:n.4281-42_4281-37del | ||
| ENST00000681495.1:c.1053-42_1053-37del | ENSP00000506085.1:n.1053-42_1053-37del | |
| ENST00000681558.1:c.1191-42_1191-37del | ENSP00000505568.1:n.1191-42_1191-37del | |
| ENST00000681619.1:c.3513-42_3513-37del | ENSP00000505071.1:n.3513-42_3513-37del | |
| ENST00000681716.1:c.*1224-42_*1224-37del | ENSP00000505078.1:n.*1224-42_*1224-37del | |
| ENST00000681758.1:n.3855-42_3855-37del | ||
| ENST00000681768.1:c.*1177-42_*1177-37del | ENSP00000506311.1:n.*1177-42_*1177-37del | |
| ENST00000681808.1:c.3513-42_3513-37del | ENSP00000505219.1:n.3513-42_3513-37del | |
| ENST00000264276.10:c.3513-42_3513-37del | ENSP00000264276.6:n.3513-42_3513-37del | |
| ENST00000439495.5:c.1474-42_1474-37del | ||
| ENST00000482891.5:n.3653-42_3653-37del | ||
| ENST00000489440.5:n.334-42_334-37del | ||
| NM_020919.3:c.3513-42_3513-37del | NP_065970.2:n.3513-42_3513-37del | |
| XM_005246709.2:c.3513-42_3513-37del | XP_005246766.1:n.3513-42_3513-37del | |
| XM_006712654.1:c.3513-42_3513-37del | XP_006712717.1:n.3513-42_3513-37del | |
| XM_006712655.2:c.1449-42_1449-37del | XP_006712718.1:n.1449-42_1449-37del | |
| XM_011511530.1:c.3174-42_3174-37del | XP_011509832.1:n.3174-42_3174-37del | |
| XM_011511531.1:c.3513-42_3513-37del | XP_011509833.1:n.3513-42_3513-37del | |
| XR_922974.1:n.3648-42_3648-37del | ||
| XM_006712654.3:c.3513-42_3513-37del | XP_006712717.1:n.3513-42_3513-37del | |
| XM_006712655.3:c.1449-42_1449-37del | XP_006712718.1:n.1449-42_1449-37del | |
| XM_017004569.2:c.3513-42_3513-37del | XP_016860058.1:n.3513-42_3513-37del | |
| XM_017004570.2:c.3513-42_3513-37del | XP_016860059.1:n.3513-42_3513-37del | |
| XM_017004572.2:c.1131-42_1131-37del | XP_016860061.1:n.1131-42_1131-37del | |
| XM_024453024.1:c.3174-42_3174-37del | XP_024308792.1:n.3174-42_3174-37del | |
| XM_024453025.1:c.1449-42_1449-37del | XP_024308793.1:n.1449-42_1449-37del | |
| XR_001738864.2:n.3648-42_3648-37del | ||
| XR_001738865.2:n.3648-42_3648-37del | ||
| XR_001738866.2:n.3648-42_3648-37del | ||
| XR_001738867.2:n.3648-42_3648-37del | ||
| XR_002959320.1:n.2704-42_2704-37del | ||
| NM_020919.4:c.3513-42_3513-37del MANE Select | NP_065970.2:n.3513-42_3513-37del |