Canonical Allele Identifier: CA2818098055

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001401dup , CM000683.2:g.46001401dup	GRCh38
NC_000021.8:g.47421315dup , CM000683.1:g.47421315dup	GRCh37
NC_000021.7:g.46245743dup	NCBI36
NG_008674.1:g.24653dup , LRG_475:g.24653dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.355+15dup
ENST00000612273.2:c.82+15dup
ENST00000682634.1:c.82+15dup
ENST00000361866.8:c.1956+15dup MANE Select	ENSP00000355180.3:n.1956+15dup
ENST00000361866.7:c.1956+15dup	ENSP00000355180.3:n.1956+15dup
ENST00000463060.5:n.355+15dup
ENST00000498614.5:n.190+15dup
ENST00000612273.1:c.1950+15dup	ENSP00000483630.1:n.1950+15dup
NM_001848.2:c.1956+15dup , LRG_475t1:c.1956+15dup	NP_001839.2:n.1956+15dup
NM_001848.3:c.1956+15dup MANE Select	NP_001839.2:n.1956+15dup