Canonical Allele Identifier: CA2586971654

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359209_237359217del , CM000664.2:g.237359209_237359217del	GRCh38
NC_000002.11:g.238267852_238267860del , CM000664.1:g.238267852_238267860del	GRCh37
NC_000002.10:g.237932591_237932599del	NCBI36
NG_008676.1:g.59995_60003del , LRG_473:g.59995_60003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5729_5736+1del
ENST00000295550.9:c.6347_6354+1del
ENST00000295550.8:c.6347_6354+1del
ENST00000347401.7:c.4526_4533+1del
ENST00000353578.8:c.5729_5736+1del
ENST00000409809.5:c.5729_5736+1del
ENST00000472056.5:c.4526_4533+1del
NM_004369.3:c.6347_6354+1del , LRG_473t1:c.6347_6354+1del
NM_057166.4:c.4526_4533+1del
NM_057167.3:c.5729_5736+1del
XM_005246065.1:c.5747_5754+1del
XM_005246066.1:c.5126_5133+1del
XM_006712253.1:c.5846_5853+1del
XM_011510574.1:c.6344_6351+1del
XM_011510575.1:c.3941_3948+1del
XM_017003304.1:c.3941_3948+1del
XM_024452684.1:c.5126_5133+1del
NM_004369.4:c.6347_6354+1del
NM_057166.5:c.4526_4533+1del
NM_057167.4:c.5729_5736+1del