Canonical Allele Identifier: CA2392499448

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114000_46114011delinsCGTTTCAGTGCT , CM000683.2:g.46114000_46114011delinsCGTTTCAGTGCT	GRCh38
NC_000021.8:g.47533914_47533925delinsCGTTTCAGTGCT , CM000683.1:g.47533914_47533925delinsCGTTTCAGTGCT	GRCh37
NC_000021.7:g.46358342_46358353delinsCGTTTCAGTGCT	NCBI36
NG_008675.1:g.20882_20893delinsCGTTTCAGTGCT , LRG_476:g.20882_20893delinsCGTTTCAGTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.736-8_739delinsCGTTTCAGTGCT
ENST00000300527.9:c.736-8_739delinsCGTTTCAGTGCT
ENST00000409416.6:c.736-8_739delinsCGTTTCAGTGCT
ENST00000300527.8:c.736-8_739delinsCGTTTCAGTGCT
ENST00000310645.9:c.736-8_739delinsCGTTTCAGTGCT
ENST00000397763.5:c.736-8_739delinsCGTTTCAGTGCT
ENST00000409416.5:c.736-8_739delinsCGTTTCAGTGCT
ENST00000485591.1:n.384_395delinsCGTTTCAGTGCT
NM_001849.3:c.736-8_739delinsCGTTTCAGTGCT , LRG_476t1:c.736-8_739delinsCGTTTCAGTGCT
NM_058174.2:c.736-8_739delinsCGTTTCAGTGCT
NM_058175.2:c.736-8_739delinsCGTTTCAGTGCT
XM_011529451.1:c.736-8_739delinsCGTTTCAGTGCT
XM_011529452.1:c.736-8_739delinsCGTTTCAGTGCT
XR_937438.1:n.859-8_862delinsCGTTTCAGTGCT
XR_937439.1:n.859-8_862delinsCGTTTCAGTGCT
XR_937438.2:n.866-8_869delinsCGTTTCAGTGCT
XR_937439.2:n.866-8_869delinsCGTTTCAGTGCT
NM_001849.4:c.736-8_739delinsCGTTTCAGTGCT
NM_058174.3:c.736-8_739delinsCGTTTCAGTGCT
NM_058175.3:c.736-8_739delinsCGTTTCAGTGCT