Canonical Allele Identifier: CA2521489183
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990411_45990412insGATGGGGTGG , CM000683.2:g.45990411_45990412insGATGGGGTGG GRCh38
NC_000021.8:g.47410325_47410326insGATGGGGTGG , CM000683.1:g.47410325_47410326insGATGGGGTGG GRCh37
NC_000021.7:g.46234753_46234754insGATGGGGTGG NCBI36
NG_008674.1:g.13663_13664insGATGGGGTGG , LRG_475:g.13663_13664insGATGGGGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.991_992insGATGGGGTGG MANE Select ENSP00000355180.3:p.Asp331GlyfsTer25
ENST00000361866.7:c.991_992insGATGGGGTGG ENSP00000355180.3:p.Asp331GlyfsTer25
ENST00000612273.1:c.991_992insGATGGGGTGG ENSP00000483630.1:p.Asp331GlyfsTer25
NM_001848.2:c.991_992insGATGGGGTGG , LRG_475t1:c.991_992insGATGGGGTGG NP_001839.2:p.Asp331GlyfsTer25
NM_001848.3:c.991_992insGATGGGGTGG MANE Select NP_001839.2:p.Asp331GlyfsTer25