Canonical Allele Identifier: CA1022881904

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077770999
• gnomAD v3: 21-45990587-T-TGGG
• gnomAD v4: 21-45990587-T-TGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990588_45990589insGGG , CM000683.2:g.45990588_45990589insGGG	GRCh38
NC_000021.8:g.47410502_47410503insGGG , CM000683.1:g.47410502_47410503insGGG	GRCh37
NC_000021.7:g.46234930_46234931insGGG	NCBI36
NG_008674.1:g.13840_13841insGGG , LRG_475:g.13840_13841insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+166_1002+167insGGG MANE Select	ENSP00000355180.3:n.1002+166_1002+167insGGG
ENST00000361866.7:c.1002+166_1002+167insGGG	ENSP00000355180.3:n.1002+166_1002+167insGGG
ENST00000612273.1:c.1002+166_1002+167insGGG	ENSP00000483630.1:n.1002+166_1002+167insGGG
NM_001848.2:c.1002+166_1002+167insGGG , LRG_475t1:c.1002+166_1002+167insGGG	NP_001839.2:n.1002+166_1002+167insGGG
NM_001848.3:c.1002+166_1002+167insGGG MANE Select	NP_001839.2:n.1002+166_1002+167insGGG