Linked Data
dbSNP Id:
rs1420817602
gnomAD v3:
7-83407400-T-TATGTTG
gnomAD v4:
7-83407400-T-TATGTTG
MyVariant Identifiers:
chr7:g.83036716_83036717insATGTTG (hg19)
chr7:g.83407400_83407401insATGTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407403_83407408dup , CM000669.2:g.83407403_83407408dup | GRCh38 |
| NC_000007.13:g.83036719_83036724dup , CM000669.1:g.83036719_83036724dup | GRCh37 |
| NC_000007.12:g.82874655_82874660dup | NCBI36 |
| NG_021242.1:g.246758_246763dup | |
| NG_021242.2:g.246758_246763dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.491-167_491-162dup | ENSP00000405052.1:n.491-167_491-162dup | |
| ENST00000642232.1:c.671-167_671-162dup | ENSP00000494064.1:n.671-167_671-162dup | |
| ENST00000643230.2:c.671-167_671-162dup MANE Select | ENSP00000496491.1:n.671-167_671-162dup | |
| ENST00000643441.1:n.656-167_656-162dup | ||
| ENST00000644381.1:n.234-167_234-162dup | ||
| ENST00000307792.7:c.671-167_671-162dup | ENSP00000303212.3:n.671-167_671-162dup | |
| ENST00000427262.5:c.491-167_491-162dup | ENSP00000405052.1:n.491-167_491-162dup | |
| NM_001178129.1:c.491-167_491-162dup | NP_001171600.1:n.491-167_491-162dup | |
| NM_012431.2:c.671-167_671-162dup | NP_036563.1:n.671-167_671-162dup | |
| XM_011516715.1:c.671-167_671-162dup | XP_011515017.1:n.671-167_671-162dup | |
| NM_012431.3:c.671-167_671-162dup MANE Select | NP_036563.1:n.671-167_671-162dup | |
| NM_001178129.2:c.491-167_491-162dup | NP_001171600.1:n.491-167_491-162dup |