Linked Data
dbSNP Id:
rs1036032398
gnomAD v3:
17-61456200-C-CGAGAGGG
gnomAD v4:
17-61456200-C-CGAGAGGG
MyVariant Identifiers:
chr17:g.59533561_59533562insGAGAGGG (hg19)
chr17:g.61456200_61456201insGAGAGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61456201_61456207dup , CM000679.2:g.61456201_61456207dup | GRCh38 |
| NC_000017.10:g.59533562_59533568dup , CM000679.1:g.59533562_59533568dup | GRCh37 |
| NC_000017.9:g.56888344_56888350dup | NCBI36 |
| NG_008080.1:g.4756_4762dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644296.1:c.-3-287_-3-281dup MANE Select | ENSP00000495986.1:n.-3-287_-3-281dup | |
| ENST00000393853.8:c.-3-287_-3-281dup | ENSP00000377435.3:n.-3-287_-3-281dup | |
| ENST00000589003.5:c.-125-423_-125-417dup | ENSP00000467588.1:n.-125-423_-125-417dup | |
| XM_005257835.3:c.-3-287_-3-281dup | XP_005257892.2:n.-3-287_-3-281dup | |
| XM_005257837.2:c.-3-287_-3-281dup | XP_005257894.1:n.-3-287_-3-281dup | |
| XM_011525490.1:c.187-287_187-281dup | XP_011523792.1:n.187-287_187-281dup | |
| XM_011525491.1:c.187-287_187-281dup | XP_011523793.1:n.187-287_187-281dup | |
| XM_011525492.1:c.-3-287_-3-281dup | XP_011523794.1:n.-3-287_-3-281dup | |
| XM_011525493.1:c.-3-287_-3-281dup | XP_011523795.1:n.-3-287_-3-281dup | |
| XM_011525494.1:c.-3-287_-3-281dup | XP_011523796.1:n.-3-287_-3-281dup | |
| XM_011525495.1:c.187-287_187-281dup | XP_011523797.1:n.187-287_187-281dup | |
| NM_001321120.2:c.-3-287_-3-281dup MANE Select | NP_001308049.1:n.-3-287_-3-281dup | |
| XM_011525490.2:c.187-287_187-281dup | XP_011523792.1:n.187-287_187-281dup | |
| XM_011525491.2:c.187-287_187-281dup | XP_011523793.1:n.187-287_187-281dup | |
| XM_011525495.2:c.187-287_187-281dup | XP_011523797.1:n.187-287_187-281dup |