Linked Data
dbSNP Id:
rs929038451
gnomAD v2:
7-92140467-T-TC
gnomAD v3:
7-92511153-T-TC
gnomAD v4:
7-92511153-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511159dup , CM000669.2:g.92511159dup | GRCh38 |
| NC_000007.13:g.92140473dup , CM000669.1:g.92140473dup | GRCh37 |
| NC_000007.12:g.91978409dup | NCBI36 |
| NG_008341.1:g.22378dup | |
| NG_008341.2:g.22378dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1484-107dup MANE Select | ENSP00000248633.4:n.1484-107dup | |
| ENST00000248633.8:c.1484-107dup | ENSP00000248633.4:n.1484-107dup | |
| ENST00000422866.1:c.385-107dup | ||
| ENST00000428214.5:c.1484-107dup | ENSP00000394413.1:n.1484-107dup | |
| ENST00000438045.5:c.518-107dup | ENSP00000410438.1:n.518-107dup | |
| ENST00000476923.1:n.245-107dup | ||
| ENST00000484913.5:n.1523-107dup | ||
| NM_000466.2:c.1484-107dup | NP_000457.1:n.1484-107dup | |
| NM_001282677.1:c.1484-107dup | NP_001269606.1:n.1484-107dup | |
| NM_001282678.1:c.860-107dup | NP_001269607.1:n.860-107dup | |
| XM_005250433.3:c.-183-107dup | XP_005250490.1:n.-183-107dup | |
| XR_242246.3:n.1580-107dup | ||
| XM_017012319.2:c.-183-107dup | XP_016867808.1:n.-183-107dup | |
| XR_001744808.2:n.594-107dup | ||
| XR_242246.5:n.1531-107dup | ||
| NM_000466.3:c.1484-107dup MANE Select | NP_000457.1:n.1484-107dup | |
| NM_001282677.2:c.1484-107dup | NP_001269606.1:n.1484-107dup | |
| NM_001282678.2:c.860-107dup | NP_001269607.1:n.860-107dup |