Linked Data
dbSNP Id:
rs1020071471
gnomAD v2:
7-146489366-A-AAG
gnomAD v3:
7-146792274-A-AAG
gnomAD v4:
7-146792274-A-AAG
MyVariant Identifiers:
chr7:g.146489366_146489367insAG (hg19)
chr7:g.146792274_146792275insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146792275_146792276insGA , CM000669.2:g.146792275_146792276insGA | GRCh38 |
| NC_000007.13:g.146489367_146489368insGA , CM000669.1:g.146489367_146489368insGA | GRCh37 |
| NC_000007.12:g.146120300_146120301insGA | NCBI36 |
| NG_007092.2:g.680915_680916insGA | |
| NG_007092.3:g.681275_681276insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.208+17894_208+17895insGA MANE Select | ENSP00000354778.3:n.208+17894_208+17895insGA | |
| ENST00000636561.1:n.111+17894_111+17895insGA | ||
| ENST00000637150.1:n.137+17894_137+17895insGA | ||
| ENST00000637694.1:n.111+17894_111+17895insGA | ||
| ENST00000638117.1:n.111+17894_111+17895insGA | ||
| ENST00000361727.7:c.208+17894_208+17895insGA | ENSP00000354778.3:n.208+17894_208+17895insGA | |
| ENST00000625365.2:c.208+17894_208+17895insGA | ENSP00000485955.1:n.208+17894_208+17895insGA | |
| NM_014141.5:c.208+17894_208+17895insGA | NP_054860.1:n.208+17894_208+17895insGA | |
| XM_017011950.2:c.208+17894_208+17895insGA | XP_016867439.1:n.208+17894_208+17895insGA | |
| NM_014141.6:c.208+17894_208+17895insGA MANE Select | NP_054860.1:n.208+17894_208+17895insGA |