Canonical Allele Identifier: CA2392429878

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984044_45984052delinsTGGTCTGAG , CM000683.2:g.45984044_45984052delinsTGGTCTGAG	GRCh38
NC_000021.8:g.47403958_47403966delinsTGGTCTGAG , CM000683.1:g.47403958_47403966delinsTGGTCTGAG	GRCh37
NC_000021.7:g.46228386_46228394delinsTGGTCTGAG	NCBI36
NG_008674.1:g.7296_7304delinsTGGTCTGAG , LRG_475:g.7296_7304delinsTGGTCTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.228-225_228-217delinsTGGTCTGAG MANE Select	ENSP00000355180.3:n.228-225_228-217delinsTGGTCTGAG
ENST00000361866.7:c.228-225_228-217delinsTGGTCTGAG	ENSP00000355180.3:n.228-225_228-217delinsTGGTCTGAG
ENST00000612273.1:c.228-225_228-217delinsTGGTCTGAG	ENSP00000483630.1:n.228-225_228-217delinsTGGTCTGAG
NM_001848.2:c.228-225_228-217delinsTGGTCTGAG , LRG_475t1:c.228-225_228-217delinsTGGTCTGAG	NP_001839.2:n.228-225_228-217delinsTGGTCTGAG
NM_001848.3:c.228-225_228-217delinsTGGTCTGAG MANE Select	NP_001839.2:n.228-225_228-217delinsTGGTCTGAG