Canonical Allele Identifier: CA2577628527

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990681_45990683del , CM000683.2:g.45990681_45990683del	GRCh38
NC_000021.8:g.47410595_47410597del , CM000683.1:g.47410595_47410597del	GRCh37
NC_000021.7:g.46235023_46235025del	NCBI36
NG_008674.1:g.13933_13935del , LRG_475:g.13933_13935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-92_1003-90del MANE Select	ENSP00000355180.3:n.1003-92_1003-90del
ENST00000361866.7:c.1003-92_1003-90del	ENSP00000355180.3:n.1003-92_1003-90del
ENST00000612273.1:c.1003-92_1003-90del	ENSP00000483630.1:n.1003-92_1003-90del
NM_001848.2:c.1003-92_1003-90del , LRG_475t1:c.1003-92_1003-90del	NP_001839.2:n.1003-92_1003-90del
NM_001848.3:c.1003-92_1003-90del MANE Select	NP_001839.2:n.1003-92_1003-90del