Canonical Allele Identifier: CA2695230337

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114074del , CM000683.2:g.46114074del	GRCh38
NC_000021.8:g.47533988del , CM000683.1:g.47533988del	GRCh37
NC_000021.7:g.46358416del	NCBI36
NG_008675.1:g.20956del , LRG_476:g.20956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+1del
ENST00000300527.9:c.801+1del
ENST00000409416.6:c.801+1del
ENST00000300527.8:c.801+1del
ENST00000310645.9:c.801+1del
ENST00000397763.5:c.801+1del
ENST00000409416.5:c.801+1del
ENST00000485591.1:n.457+1del
NM_001849.3:c.801+1del , LRG_476t1:c.801+1del
NM_058174.2:c.801+1del
NM_058175.2:c.801+1del
XM_011529451.1:c.801+1del
XM_011529452.1:c.801+1del
XR_937438.1:n.924+1del
XR_937439.1:n.924+1del
XR_937438.2:n.931+1del
XR_937439.2:n.931+1del
NM_001849.4:c.801+1del
NM_058174.3:c.801+1del
NM_058175.3:c.801+1del