Linked Data
dbSNP Id:
rs766362414
ExAC:
6:31324254 A / AGCCCC
gnomAD v2:
6-31324254-A-AGCCCC
gnomAD v3:
6-31356477-A-AGCCCC
gnomAD v4:
6-31356477-A-AGCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356489_31356493dup , CM000668.2:g.31356489_31356493dup | GRCh38 |
| NC_000006.11:g.31324266_31324270dup , CM000668.1:g.31324266_31324270dup | GRCh37 |
| NC_000006.10:g.31432245_31432249dup | NCBI36 |
| NG_023187.1:g.5731_5735dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1817-40_1817-36dup | ||
| ENST00000481849.6:n.1817-40_1817-36dup | ||
| ENST00000497377.6:n.1817-40_1817-36dup | ||
| ENST00000640094.2:c.344-40_344-36dup | ENSP00000491275.2:n.344-40_344-36dup | |
| ENST00000696558.1:c.344-40_344-36dup | ENSP00000512716.1:n.344-40_344-36dup | |
| ENST00000696559.1:c.344-40_344-36dup | ENSP00000512717.1:n.344-40_344-36dup | |
| ENST00000696560.1:c.344-40_344-36dup | ENSP00000512718.1:n.344-40_344-36dup | |
| ENST00000696561.1:c.344-40_344-36dup | ENSP00000512719.1:n.344-40_344-36dup | |
| ENST00000696562.1:c.344-40_344-36dup | ENSP00000512720.1:n.344-40_344-36dup | |
| ENST00000412585.7:c.344-40_344-36dup MANE Select | ENSP00000399168.2:n.344-40_344-36dup | |
| ENST00000412585.6:c.344-40_344-36dup | ENSP00000399168.2:n.344-40_344-36dup | |
| ENST00000434333.1:c.377-40_377-36dup | ENSP00000405931.1:n.377-40_377-36dup | |
| ENST00000474381.1:n.219-40_219-36dup | ||
| ENST00000498007.1:n.570_574dup | ||
| NM_005514.6:c.344-40_344-36dup | NP_005505.2:n.344-40_344-36dup | |
| XM_011514556.1:c.377-40_377-36dup | XP_011512858.1:n.377-40_377-36dup | |
| XM_011514557.1:c.344-40_344-36dup | XP_011512859.1:n.344-40_344-36dup | |
| XR_926175.1:n.354-40_354-36dup | ||
| NM_005514.7:c.344-40_344-36dup | NP_005505.2:n.344-40_344-36dup | |
| NM_005514.8:c.344-40_344-36dup MANE Select | NP_005505.2:n.344-40_344-36dup |