Linked Data
dbSNP Id:
rs1300311848
gnomAD v2:
7-146829664-T-TGCATAG
gnomAD v3:
7-147132572-T-TGCATAG
gnomAD v4:
7-147132572-T-TGCATAG
MyVariant Identifiers:
chr7:g.146829664_146829665insGCATAG (hg19)
chr7:g.147132572_147132573insGCATAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132574_147132575insATAGGC , CM000669.2:g.147132574_147132575insATAGGC | GRCh38 |
| NC_000007.13:g.146829666_146829667insATAGGC , CM000669.1:g.146829666_146829667insATAGGC | GRCh37 |
| NC_000007.12:g.146460599_146460600insATAGGC | NCBI36 |
| NG_007092.2:g.1021214_1021215insATAGGC | |
| NG_007092.3:g.1021574_1021575insATAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1348+65_1348+66insATAGGC MANE Select | ENSP00000354778.3:n.1348+65_1348+66insATAGGC | |
| ENST00000636561.1:n.1251+65_1251+66insATAGGC | ||
| ENST00000636870.1:n.1210+65_1210+66insATAGGC | ||
| ENST00000637150.1:n.1277+65_1277+66insATAGGC | ||
| ENST00000637694.1:n.1251+65_1251+66insATAGGC | ||
| ENST00000637825.1:n.831+65_831+66insATAGGC | ||
| ENST00000638117.1:n.1251+65_1251+66insATAGGC | ||
| ENST00000361727.7:c.1348+65_1348+66insATAGGC | ENSP00000354778.3:n.1348+65_1348+66insATAGGC | |
| NM_014141.5:c.1348+65_1348+66insATAGGC | NP_054860.1:n.1348+65_1348+66insATAGGC | |
| XM_017011950.2:c.1348+65_1348+66insATAGGC | XP_016867439.1:n.1348+65_1348+66insATAGGC | |
| NM_014141.6:c.1348+65_1348+66insATAGGC MANE Select | NP_054860.1:n.1348+65_1348+66insATAGGC |