Linked Data
dbSNP Id:
rs1756517661
gnomAD v3:
5-1423790-A-AACTGTAACAGCCGGGGCCAAGG
gnomAD v4:
5-1423790-A-AACTGTAACAGCCGGGGCCAAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1423790_1423791insACTGTAACAGCCGGGGCCAAGG , CM000667.2:g.1423790_1423791insACTGTAACAGCCGGGGCCAAGG | GRCh38 |
| NC_000005.9:g.1423905_1423906insACTGTAACAGCCGGGGCCAAGG , CM000667.1:g.1423905_1423906insACTGTAACAGCCGGGGCCAAGG | GRCh37 |
| NC_000005.8:g.1476905_1476906insACTGTAACAGCCGGGGCCAAGG | NCBI36 |
| NG_015885.1:g.26638_26639insCCTTGGCCCCGGCTGTTACAGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.654-1777_654-1776insCCTTGGCCCCGGCTGTTACAGT MANE Select | ENSP00000270349.9:n.654-1777_654-1776insC... | |
| ENST00000270349.11:c.654-1777_654-1776insCCTTGGCCCCGGCTGTTACAGT | ENSP00000270349.9:n.654-1777_654-1776insC... | |
| NM_001044.4:c.654-1777_654-1776insCCTTGGCCCCGGCTGTTACAGT | NP_001035.1:n.654-1777_654-1776insCCTTGGC... | |
| NM_001044.5:c.654-1777_654-1776insCCTTGGCCCCGGCTGTTACAGT MANE Select | NP_001035.1:n.654-1777_654-1776insCCTTGGC... |