Canonical Allele Identifier: CA2392430050

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984371_45984377delinsCGACGCA , CM000683.2:g.45984371_45984377delinsCGACGCA	GRCh38
NC_000021.8:g.47404285_47404291delinsCGACGCA , CM000683.1:g.47404285_47404291delinsCGACGCA	GRCh37
NC_000021.7:g.46228713_46228719delinsCGACGCA	NCBI36
NG_008674.1:g.7623_7629delinsCGACGCA , LRG_475:g.7623_7629delinsCGACGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.330_336delinsCGACGCA MANE Select	ENSP00000355180.3:p.Arg110=
ENST00000361866.7:c.330_336delinsCGACGCA	ENSP00000355180.3:p.Arg110=
ENST00000612273.1:c.330_336delinsCGACGCA	ENSP00000483630.1:p.Arg110=
NM_001848.2:c.330_336delinsCGACGCA , LRG_475t1:c.330_336delinsCGACGCA	NP_001839.2:p.Arg110=
NM_001848.3:c.330_336delinsCGACGCA MANE Select	NP_001839.2:p.Arg110=