Canonical Allele Identifier: CA2392434464

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990826_45990827delinsCG , CM000683.2:g.45990826_45990827delinsCG	GRCh38
NC_000021.8:g.47410740_47410741delinsCG , CM000683.1:g.47410740_47410741delinsCG	GRCh37
NC_000021.7:g.46235168_46235169delinsCG	NCBI36
NG_008674.1:g.14078_14079delinsCG , LRG_475:g.14078_14079delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.1056_1056+1delinsCG
ENST00000361866.7:c.1056_1056+1delinsCG
ENST00000612273.1:c.1056_1056+1delinsCG
NM_001848.2:c.1056_1056+1delinsCG , LRG_475t1:c.1056_1056+1delinsCG
NM_001848.3:c.1056_1056+1delinsCG