Linked Data
dbSNP Id:
rs542132672
gnomAD v2:
2-239305984-CTG-C
gnomAD v3:
2-238397343-CTG-C
gnomAD v4:
2-238397343-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238397345_238397346del , CM000664.2:g.238397345_238397346del | GRCh38 |
| NC_000002.11:g.239305986_239305987del , CM000664.1:g.239305986_239305987del | GRCh37 |
| NC_000002.10:g.238970725_238970726del | NCBI36 |
| NG_053055.1:g.81857_81858del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.1690-114_1690-113del MANE Select | ENSP00000362424.4:n.1690-114_1690-113del | |
| ENST00000373327.4:c.1690-114_1690-113del | ENSP00000362424.4:n.1690-114_1690-113del | |
| ENST00000391993.7:c.1492-114_1492-113del | ENSP00000375851.3:n.1492-114_1492-113del | |
| ENST00000462122.1:n.701-114_701-113del | ||
| NM_001139490.1:c.1492-114_1492-113del | NP_001132962.1:n.1492-114_1492-113del | |
| NM_015650.3:c.1690-114_1690-113del | NP_056465.2:n.1690-114_1690-113del | |
| XM_006712414.1:c.1489-114_1489-113del | XP_006712477.1:n.1489-114_1489-113del | |
| XM_011510944.1:c.1792-114_1792-113del | XP_011509246.1:n.1792-114_1792-113del | |
| XM_011510945.1:c.1753-114_1753-113del | XP_011509247.1:n.1753-114_1753-113del | |
| XM_011510946.1:c.1720-114_1720-113del | XP_011509248.1:n.1720-114_1720-113del | |
| XM_011510947.1:c.1660-114_1660-113del | XP_011509249.1:n.1660-114_1660-113del | |
| XM_011510948.1:c.1594-114_1594-113del | XP_011509250.1:n.1594-114_1594-113del | |
| XM_011510950.1:c.658-114_658-113del | XP_011509252.1:n.658-114_658-113del | |
| XR_922902.1:n.1989-114_1989-113del | ||
| XM_006712414.2:c.1489-114_1489-113del | XP_006712477.1:n.1489-114_1489-113del | |
| XM_011510944.2:c.1792-114_1792-113del | XP_011509246.1:n.1792-114_1792-113del | |
| XM_011510945.2:c.1753-114_1753-113del | XP_011509247.1:n.1753-114_1753-113del | |
| XM_011510946.2:c.1720-114_1720-113del | XP_011509248.1:n.1720-114_1720-113del | |
| XM_011510947.2:c.1660-114_1660-113del | XP_011509249.1:n.1660-114_1660-113del | |
| XM_011510948.2:c.1594-114_1594-113del | XP_011509250.1:n.1594-114_1594-113del | |
| XM_011510950.2:c.658-114_658-113del | XP_011509252.1:n.658-114_658-113del | |
| XM_017003789.1:c.1789-114_1789-113del | XP_016859278.1:n.1789-114_1789-113del | |
| XR_001738696.1:n.1518-114_1518-113del | ||
| XR_001738697.1:n.1515-114_1515-113del | ||
| XR_922902.2:n.2052-114_2052-113del | ||
| NM_015650.4:c.1690-114_1690-113del MANE Select | NP_056465.2:n.1690-114_1690-113del |