Linked Data
dbSNP Id:
rs72230434
gnomAD v2:
2-1491510-C-CAA
gnomAD v3:
2-1487738-C-CAA
gnomAD v4:
2-1487738-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1487751_1487752dup , CM000664.2:g.1487751_1487752dup | GRCh38 |
| NC_000002.11:g.1491523_1491524dup , CM000664.1:g.1491523_1491524dup | GRCh37 |
| NC_000002.10:g.1470530_1470531dup | NCBI36 |
| NG_011581.1:g.79289_79290dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.1598-70_1598-69dup MANE Select | ENSP00000329869.4:n.1598-70_1598-69dup | |
| ENST00000329066.8:c.1598-70_1598-69dup | ENSP00000329869.4:n.1598-70_1598-69dup | |
| ENST00000345913.8:c.1598-70_1598-69dup | ENSP00000318820.7:n.1598-70_1598-69dup | |
| ENST00000346956.7:c.1598-70_1598-69dup | ENSP00000263886.6:n.1598-70_1598-69dup | |
| ENST00000382198.5:c.1079-70_1079-69dup | ENSP00000371633.1:n.1079-70_1079-69dup | |
| ENST00000382201.7:c.1597+2897_1597+2898dup | ENSP00000371636.3:n.1597+2897_1597+2898dup | |
| ENST00000422464.5:c.1385-70_1385-69dup | ENSP00000405788.1:n.1385-70_1385-69dup | |
| ENST00000446278.5:c.192+2897_192+2898dup | ||
| ENST00000462973.5:n.186+2897_186+2898dup | ||
| ENST00000469607.3:c.190+2897_190+2898dup | ENSP00000419461.1:n.190+2897_190+2898dup | |
| ENST00000497517.6:n.439+2897_439+2898dup | ||
| NM_000547.5:c.1598-70_1598-69dup | NP_000538.3:n.1598-70_1598-69dup | |
| NM_001206744.1:c.1598-70_1598-69dup | NP_001193673.1:n.1598-70_1598-69dup | |
| NM_001206745.1:c.1597+2897_1597+2898dup | NP_001193674.1:n.1597+2897_1597+2898dup | |
| NM_175719.3:c.1597+2897_1597+2898dup | NP_783650.1:n.1597+2897_1597+2898dup | |
| NM_175721.3:c.1598-70_1598-69dup | NP_783652.1:n.1598-70_1598-69dup | |
| NM_175722.3:c.1079-70_1079-69dup | NP_783653.1:n.1079-70_1079-69dup | |
| XM_011510379.1:c.1598-70_1598-69dup | XP_011508681.1:n.1598-70_1598-69dup | |
| XM_011510380.1:c.1598-70_1598-69dup | XP_011508682.1:n.1598-70_1598-69dup | |
| XM_011510381.1:c.1597+2897_1597+2898dup | XP_011508683.1:n.1597+2897_1597+2898dup | |
| XR_922681.1:n.1599-70_1599-69dup | ||
| XM_011510380.3:c.1634-70_1634-69dup | XP_011508682.2:n.1634-70_1634-69dup | |
| XM_024453085.1:c.1634-70_1634-69dup | XP_024308853.1:n.1634-70_1634-69dup | |
| XM_024453086.1:c.1634-70_1634-69dup | XP_024308854.1:n.1634-70_1634-69dup | |
| XM_024453087.1:c.1598-70_1598-69dup | XP_024308855.1:n.1598-70_1598-69dup | |
| XM_024453088.1:c.1598-70_1598-69dup | XP_024308856.1:n.1598-70_1598-69dup | |
| XM_024453089.1:c.1598-70_1598-69dup | XP_024308857.1:n.1598-70_1598-69dup | |
| XM_024453090.1:c.1634-70_1634-69dup | XP_024308858.1:n.1634-70_1634-69dup | |
| XM_024453091.1:c.1633+2897_1633+2898dup | XP_024308859.1:n.1633+2897_1633+2898dup | |
| XM_024453092.1:c.1633+2897_1633+2898dup | XP_024308860.1:n.1633+2897_1633+2898dup | |
| XM_024453093.1:c.1115-70_1115-69dup | XP_024308861.1:n.1115-70_1115-69dup | |
| NM_001206744.2:c.1598-70_1598-69dup MANE Select | NP_001193673.1:n.1598-70_1598-69dup | |
| NM_000547.6:c.1598-70_1598-69dup | NP_000538.3:n.1598-70_1598-69dup | |
| NM_001206745.2:c.1597+2897_1597+2898dup | NP_001193674.1:n.1597+2897_1597+2898dup | |
| NM_175719.4:c.1597+2897_1597+2898dup | NP_783650.1:n.1597+2897_1597+2898dup |