Canonical Allele Identifier: CA2392434172

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990455_45990459delinsGACGA , CM000683.2:g.45990455_45990459delinsGACGA	GRCh38
NC_000021.8:g.47410369_47410373delinsGACGA , CM000683.1:g.47410369_47410373delinsGACGA	GRCh37
NC_000021.7:g.46234797_46234801delinsGACGA	NCBI36
NG_008674.1:g.13707_13711delinsGACGA , LRG_475:g.13707_13711delinsGACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+33_1002+37delinsGACGA MANE Select	ENSP00000355180.3:n.1002+33_1002+37delinsGACGA
ENST00000361866.7:c.1002+33_1002+37delinsGACGA	ENSP00000355180.3:n.1002+33_1002+37delinsGACGA
ENST00000612273.1:c.1002+33_1002+37delinsGACGA	ENSP00000483630.1:n.1002+33_1002+37delinsGACGA
NM_001848.2:c.1002+33_1002+37delinsGACGA , LRG_475t1:c.1002+33_1002+37delinsGACGA	NP_001839.2:n.1002+33_1002+37delinsGACGA
NM_001848.3:c.1002+33_1002+37delinsGACGA MANE Select	NP_001839.2:n.1002+33_1002+37delinsGACGA