Linked Data
dbSNP Id:
rs751764300
gnomAD v2:
6-31324518-GTCTGTGCCTGGGCCTTGTAGA-G
gnomAD v3:
6-31356741-GTCTGTGCCTGGGCCTTGTAGA-G
gnomAD v4:
6-31356741-GTCTGTGCCTGGGCCTTGTAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356748_31356768del , CM000668.2:g.31356748_31356768del | GRCh38 |
| NC_000006.11:g.31324525_31324545del , CM000668.1:g.31324525_31324545del | GRCh37 |
| NC_000006.10:g.31432504_31432524del | NCBI36 |
| NG_023187.1:g.5451_5471del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.1742_1762del | ||
| ENST00000481849.6:n.1742_1762del | ||
| ENST00000497377.6:n.1742_1762del | ||
| ENST00000640094.2:c.269_289del | ENSP00000491275.2:p.Ile90_Gln96del | |
| ENST00000696558.1:c.269_289del | ENSP00000512716.1:p.Ile90_Gln96del | |
| ENST00000696559.1:c.269_289del | ENSP00000512717.1:p.Ile90_Gln96del | |
| ENST00000696560.1:c.269_289del | ENSP00000512718.1:p.Ile90_Gln96del | |
| ENST00000696561.1:c.269_289del | ENSP00000512719.1:p.Ile90_Gln96del | |
| ENST00000696562.1:c.269_289del | ENSP00000512720.1:p.Ile90_Gln96del | |
| ENST00000412585.7:c.269_289del MANE Select | ENSP00000399168.2:p.Ile90_Gln96del | |
| ENST00000412585.6:c.269_289del | ENSP00000399168.2:p.Ile90_Gln96del | |
| ENST00000434333.1:c.302_322del | ENSP00000405931.1:p.Ile101_Gln107del | |
| ENST00000474381.1:n.144_164del | ||
| ENST00000498007.1:n.290_310del | ||
| ENST00000603274.1:n.102_122del | ||
| NM_005514.6:c.269_289del | NP_005505.2:p.Ile90_Gln96del | |
| XM_011514556.1:c.302_322del | XP_011512858.1:p.Ile101_Gln107del | |
| XM_011514557.1:c.269_289del | XP_011512859.1:p.Ile90_Gln96del | |
| XR_926175.1:n.279_299del | ||
| NM_005514.7:c.269_289del | NP_005505.2:p.Ile90_Gln96del | |
| NM_005514.8:c.269_289del MANE Select | NP_005505.2:p.Ile90_Gln96del |