Canonical Allele Identifier: CA221747

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990774_45990827del , CM000683.2:g.45990774_45990827del	GRCh38
NC_000021.8:g.47410688_47410741del , CM000683.1:g.47410688_47410741del	GRCh37
NC_000021.7:g.46235116_46235169del	NCBI36
NG_008674.1:g.14026_14079del , LRG_475:g.14026_14079del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.1004_1056+1del
ENST00000361866.7:c.1004_1056+1del
ENST00000612273.1:c.1004_1056+1del
NM_001848.2:c.1004_1056+1del , LRG_475t1:c.1004_1056+1del
NM_001848.3:c.1004_1056+1del