Canonical Allele Identifier: CA2392440388

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077842980

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001236dup , CM000683.2:g.46001236dup	GRCh38
NC_000021.8:g.47421150dup , CM000683.1:g.47421150dup	GRCh37
NC_000021.7:g.46245578dup	NCBI36
NG_008674.1:g.24488dup , LRG_475:g.24488dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.222-17dup
ENST00000361866.8:c.1823-17dup MANE Select	ENSP00000355180.3:n.1823-17dup
ENST00000361866.7:c.1823-17dup	ENSP00000355180.3:n.1823-17dup
ENST00000463060.5:n.222-17dup
ENST00000498614.5:n.40dup
ENST00000612273.1:c.1817-17dup	ENSP00000483630.1:n.1817-17dup
NM_001848.2:c.1823-17dup , LRG_475t1:c.1823-17dup	NP_001839.2:n.1823-17dup
NM_001848.3:c.1823-17dup MANE Select	NP_001839.2:n.1823-17dup