Canonical Allele Identifier: CA2392430100

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984453_45984456delinsGAGC , CM000683.2:g.45984453_45984456delinsGAGC	GRCh38
NC_000021.8:g.47404367_47404370delinsGAGC , CM000683.1:g.47404367_47404370delinsGAGC	GRCh37
NC_000021.7:g.46228795_46228798delinsGAGC	NCBI36
NG_008674.1:g.7705_7708delinsGAGC , LRG_475:g.7705_7708delinsGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.412_415delinsGAGC MANE Select	ENSP00000355180.3:p.Glu138=
ENST00000361866.7:c.412_415delinsGAGC	ENSP00000355180.3:p.Glu138=
ENST00000612273.1:c.412_415delinsGAGC	ENSP00000483630.1:p.Glu138=
NM_001848.2:c.412_415delinsGAGC , LRG_475t1:c.412_415delinsGAGC	NP_001839.2:p.Glu138=
NM_001848.3:c.412_415delinsGAGC MANE Select	NP_001839.2:p.Glu138=