Linked Data
dbSNP Id:
rs758177546
gnomAD v3:
12-102916743-T-TAA
gnomAD v4:
12-102916743-T-TAA
MyVariant Identifiers:
chr12:g.103310521_103310522insAA (hg19)
chr12:g.102916743_102916744insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102916744_102916745insAA , CM000674.2:g.102916744_102916745insAA | GRCh38 |
| NC_000012.11:g.103310522_103310523insAA , CM000674.1:g.103310522_103310523insAA | GRCh37 |
| NC_000012.10:g.101834652_101834653insAA | NCBI36 |
| NG_008690.1:g.5859_5860insTT | |
| NG_008690.2:g.46667_46668insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.60+327_60+328insTT MANE Select | ENSP00000448059.1:n.60+327_60+328insTT | |
| ENST00000307000.7:c.-88+327_-88+328insTT | ENSP00000303500.2:n.-88+327_-88+328insTT | |
| ENST00000546844.1:c.60+327_60+328insTT | ENSP00000446658.1:n.60+327_60+328insTT | |
| ENST00000547319.1:n.372-146_372-145insTT | ||
| ENST00000549111.5:n.156+327_156+328insTT | ||
| ENST00000550978.6:c.44+327_44+328insTT | ||
| ENST00000551337.5:c.60+327_60+328insTT | ENSP00000447620.1:n.60+327_60+328insTT | |
| ENST00000551988.5:n.149+327_149+328insTT | ||
| ENST00000553106.5:c.60+327_60+328insTT | ENSP00000448059.1:n.60+327_60+328insTT | |
| ENST00000635500.1:n.29-3846_29-3845insTT | ||
| NM_000277.1:c.60+327_60+328insTT | NP_000268.1:n.60+327_60+328insTT | |
| XM_011538422.1:c.60+327_60+328insTT | XP_011536724.1:n.60+327_60+328insTT | |
| NM_000277.2:c.60+327_60+328insTT | NP_000268.1:n.60+327_60+328insTT | |
| NM_001354304.1:c.60+327_60+328insTT | NP_001341233.1:n.60+327_60+328insTT | |
| XM_017019370.2:c.60+327_60+328insTT | XP_016874859.1:n.60+327_60+328insTT | |
| NM_000277.3:c.60+327_60+328insTT MANE Select | NP_000268.1:n.60+327_60+328insTT | |
| NM_001354304.2:c.60+327_60+328insTT | NP_001341233.1:n.60+327_60+328insTT |