Linked Data
dbSNP Id:
rs1383694326
gnomAD v3:
7-92502989-TA-T
gnomAD v4:
7-92502989-TA-T
MyVariant Identifiers:
chr7:g.92132304del (hg19)
chr7:g.92502991del (hg38)
chr7:g.92502990del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92502991del , CM000669.2:g.92502991del | GRCh38 |
| NC_000007.13:g.92132305del , CM000669.1:g.92132305del | GRCh37 |
| NC_000007.12:g.91970241del | NCBI36 |
| NG_008341.1:g.30542del | |
| NG_008341.2:g.30542del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2226+51del MANE Select | ENSP00000248633.4:n.2226+51del | |
| ENST00000248633.8:c.2226+51del | ENSP00000248633.4:n.2226+51del | |
| ENST00000428214.5:c.2055+51del | ENSP00000394413.1:n.2055+51del | |
| ENST00000438045.5:c.1260+51del | ENSP00000410438.1:n.1260+51del | |
| ENST00000484913.5:n.2265+51del | ||
| ENST00000496092.1:n.24+51del | ||
| ENST00000496420.5:n.1902+51del | ||
| NM_000466.2:c.2226+51del | NP_000457.1:n.2226+51del | |
| NM_001282677.1:c.2055+51del | NP_001269606.1:n.2055+51del | |
| NM_001282678.1:c.1602+51del | NP_001269607.1:n.1602+51del | |
| XM_005250433.3:c.477+51del | XP_005250490.1:n.477+51del | |
| XR_242246.3:n.2322+51del | ||
| XM_017012319.2:c.477+51del | XP_016867808.1:n.477+51del | |
| XR_001744808.2:n.1253+51del | ||
| XR_242246.5:n.2273+51del | ||
| NM_000466.3:c.2226+51del MANE Select | NP_000457.1:n.2226+51del | |
| NM_001282677.2:c.2055+51del | NP_001269606.1:n.2055+51del | |
| NM_001282678.2:c.1602+51del | NP_001269607.1:n.1602+51del |