Canonical Allele Identifier: CA2654957034

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987622-C-CCTCCGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987632_45987639dup , CM000683.2:g.45987632_45987639dup	GRCh38
NC_000021.8:g.47407546_47407553dup , CM000683.1:g.47407546_47407553dup	GRCh37
NC_000021.7:g.46231974_46231981dup	NCBI36
NG_008674.1:g.10884_10891dup , LRG_475:g.10884_10891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.782_789dup MANE Select	ENSP00000355180.3:p.Asp264SerfsTer?
ENST00000361866.7:c.782_789dup	ENSP00000355180.3:p.Asp264SerfsTer?
ENST00000612273.1:c.782_789dup	ENSP00000483630.1:p.Asp264SerfsTer?
NM_001848.2:c.782_789dup , LRG_475t1:c.782_789dup	NP_001839.2:p.Asp264SerfsTer?
NM_001848.3:c.782_789dup MANE Select	NP_001839.2:p.Asp264SerfsTer?