Canonical Allele Identifier: CA2392429863

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984009_45984010delinsAC , CM000683.2:g.45984009_45984010delinsAC	GRCh38
NC_000021.8:g.47403923_47403924delinsAC , CM000683.1:g.47403923_47403924delinsAC	GRCh37
NC_000021.7:g.46228351_46228352delinsAC	NCBI36
NG_008674.1:g.7261_7262delinsAC , LRG_475:g.7261_7262delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.228-260_228-259delinsAC MANE Select	ENSP00000355180.3:n.228-260_228-259delinsAC
ENST00000361866.7:c.228-260_228-259delinsAC	ENSP00000355180.3:n.228-260_228-259delinsAC
ENST00000612273.1:c.228-260_228-259delinsAC	ENSP00000483630.1:n.228-260_228-259delinsAC
NM_001848.2:c.228-260_228-259delinsAC , LRG_475t1:c.228-260_228-259delinsAC	NP_001839.2:n.228-260_228-259delinsAC
NM_001848.3:c.228-260_228-259delinsAC MANE Select	NP_001839.2:n.228-260_228-259delinsAC