Linked Data
dbSNP Id:
rs1191990120
gnomAD v3:
7-99642541-G-GTCAT
gnomAD v4:
7-99642541-G-GTCAT
MyVariant Identifiers:
chr7:g.99240164_99240165insTCAT (hg19)
chr7:g.99642541_99642542insTCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99642544_99642545insTTCA , CM000669.2:g.99642544_99642545insTTCA | GRCh38 |
| NC_000007.13:g.99240167_99240168insTTCA , CM000669.1:g.99240167_99240168insTTCA | GRCh37 |
| NC_000007.12:g.99078103_99078104insTTCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011515909.1:c.805+18364_805+18365insTTCA | XP_011514211.1:n.805+18364_805+18365insTT... | |
| XM_011515910.1:c.806-4927_806-4926insTTCA | XP_011514212.1:n.806-4927_806-4926insTTCA... | |
| XR_927402.1:n.1466+18364_1466+18365insTTCA | ||
| NM_001350984.1:c.805+18364_805+18365insTTCA | NP_001337913.1:n.805+18364_805+18365insTT... | |
| NM_001350985.1:c.805+18364_805+18365insTTCA | NP_001337914.1:n.805+18364_805+18365insTT... | |
| XM_011515909.2:c.805+18364_805+18365insTTCA | XP_011514211.1:n.805+18364_805+18365insTT... | |
| XM_011515910.2:c.806-4927_806-4926insTTCA | XP_011514212.1:n.806-4927_806-4926insTTCA... | |
| XR_927402.2:n.1465+18364_1465+18365insTTCA | ||
| NM_001350984.2:c.805+18364_805+18365insTTCA | NP_001337913.1:n.805+18364_805+18365insTT... | |
| NM_001350985.2:c.805+18364_805+18365insTTCA | NP_001337914.1:n.805+18364_805+18365insTT... |