Linked Data
dbSNP Id:
rs201464366
gnomAD v2:
4-109046870-ATTT-A
gnomAD v3:
4-108125714-ATTT-A
gnomAD v4:
4-108125714-ATTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108125727_108125729del , CM000666.2:g.108125727_108125729del | GRCh38 |
| NC_000004.11:g.109046883_109046885del , CM000666.1:g.109046883_109046885del | GRCh37 |
| NC_000004.10:g.109266332_109266334del | NCBI36 |
| NG_015798.1:g.48240_48242del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265165.6:c.415-36460_415-36458del MANE Select | ENSP00000265165.1:n.415-36460_415-36458del | |
| ENST00000265165.5:c.415-36460_415-36458del | ENSP00000265165.1:n.415-36460_415-36458del | |
| ENST00000379951.6:c.415-36460_415-36458del | ENSP00000369284.2:n.415-36460_415-36458del | |
| ENST00000438313.6:c.415-36460_415-36458del | ENSP00000406176.2:n.415-36460_415-36458del | |
| ENST00000504775.5:n.242-36460_242-36458del | ||
| ENST00000504950.5:c.210+37851_210+37853del | ENSP00000427459.1:n.210+37851_210+37853del | |
| ENST00000505293.1:n.341-36460_341-36458del | ||
| ENST00000506680.5:c.415-36460_415-36458del | ENSP00000422334.1:n.415-36460_415-36458del | |
| ENST00000509428.5:n.234-36460_234-36458del | ||
| ENST00000510135.5:n.294-36460_294-36458del | ||
| ENST00000510624.5:c.211-36460_211-36458del | ENSP00000422840.1:n.211-36460_211-36458del | |
| ENST00000510717.5:n.296-36460_296-36458del | ||
| ENST00000512172.1:c.211-36460_211-36458del | ENSP00000427365.1:n.211-36460_211-36458del | |
| ENST00000515500.5:c.211-36460_211-36458del | ENSP00000422801.1:n.211-36460_211-36458del | |
| NM_001130713.2:c.415-36460_415-36458del | NP_001124185.1:n.415-36460_415-36458del | |
| NM_001130714.2:c.415-36460_415-36458del | NP_001124186.1:n.415-36460_415-36458del | |
| NM_001166119.1:c.211-36460_211-36458del | NP_001159591.1:n.211-36460_211-36458del | |
| NM_016269.4:c.415-36460_415-36458del | NP_057353.1:n.415-36460_415-36458del | |
| XM_005263046.2:c.415-36460_415-36458del | XP_005263103.1:n.415-36460_415-36458del | |
| XM_005263047.1:c.211-36460_211-36458del | XP_005263104.1:n.211-36460_211-36458del | |
| XM_005263048.1:c.211-36460_211-36458del | XP_005263105.1:n.211-36460_211-36458del | |
| XM_006714233.1:c.70-36460_70-36458del | XP_006714296.1:n.70-36460_70-36458del | |
| XM_005263046.3:c.415-36460_415-36458del | XP_005263103.1:n.415-36460_415-36458del | |
| NM_016269.5:c.415-36460_415-36458del MANE Select | NP_057353.1:n.415-36460_415-36458del | |
| NM_001130713.3:c.415-36460_415-36458del | NP_001124185.1:n.415-36460_415-36458del | |
| NM_001130714.3:c.415-36460_415-36458del | NP_001124186.1:n.415-36460_415-36458del | |
| NM_001166119.2:c.211-36460_211-36458del | NP_001159591.1:n.211-36460_211-36458del |