Canonical Allele Identifier: CA2392429941

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984169_45984170delinsGT , CM000683.2:g.45984169_45984170delinsGT	GRCh38
NC_000021.8:g.47404083_47404084delinsGT , CM000683.1:g.47404083_47404084delinsGT	GRCh37
NC_000021.7:g.46228511_46228512delinsGT	NCBI36
NG_008674.1:g.7421_7422delinsGT , LRG_475:g.7421_7422delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.228-100_228-99delinsGT MANE Select	ENSP00000355180.3:n.228-100_228-99delinsGT
ENST00000361866.7:c.228-100_228-99delinsGT	ENSP00000355180.3:n.228-100_228-99delinsGT
ENST00000612273.1:c.228-100_228-99delinsGT	ENSP00000483630.1:n.228-100_228-99delinsGT
NM_001848.2:c.228-100_228-99delinsGT , LRG_475t1:c.228-100_228-99delinsGT	NP_001839.2:n.228-100_228-99delinsGT
NM_001848.3:c.228-100_228-99delinsGT MANE Select	NP_001839.2:n.228-100_228-99delinsGT