Canonical Allele Identifier: CA2392504454

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122006_46122017delinsGCCCACTTCCAC , CM000683.2:g.46122006_46122017delinsGCCCACTTCCAC	GRCh38
NC_000021.8:g.47541920_47541931delinsGCCCACTTCCAC , CM000683.1:g.47541920_47541931delinsGCCCACTTCCAC	GRCh37
NC_000021.7:g.46366348_46366359delinsGCCCACTTCCAC	NCBI36
NG_008675.1:g.28888_28899delinsGCCCACTTCCAC , LRG_476:g.28888_28899delinsGCCCACTTCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1522-102_1522-91delinsGCCCACTTCCAC MANE Plus Clinical	ENSP00000380870.1:n.1522-102_1522-91delinsGCCCACTTCCAC
ENST00000300527.9:c.1522-102_1522-91delinsGCCCACTTCCAC MANE Select	ENSP00000300527.4:n.1522-102_1522-91delinsGCCCACTTCCAC
ENST00000409416.6:c.1522-102_1522-91delinsGCCCACTTCCAC	ENSP00000387115.1:n.1522-102_1522-91delinsGCCCACTTCCAC
ENST00000300527.8:c.1522-102_1522-91delinsGCCCACTTCCAC	ENSP00000300527.4:n.1522-102_1522-91delinsGCCCACTTCCAC
ENST00000310645.9:c.1522-102_1522-91delinsGCCCACTTCCAC	ENSP00000312529.5:n.1522-102_1522-91delinsGCCCACTTCCAC
ENST00000397763.5:c.1522-102_1522-91delinsGCCCACTTCCAC	ENSP00000380870.1:n.1522-102_1522-91delinsGCCCACTTCCAC
ENST00000409416.5:c.1522-102_1522-91delinsGCCCACTTCCAC	ENSP00000387115.1:n.1522-102_1522-91delinsGCCCACTTCCAC
ENST00000413758.1:c.145-102_145-91delinsGCCCACTTCCAC	ENSP00000395751.1:n.145-102_145-91delinsGCCCACTTCCAC
NM_001849.3:c.1522-102_1522-91delinsGCCCACTTCCAC , LRG_476t1:c.1522-102_1522-91delinsGCCCACTTCCAC	NP_001840.3:n.1522-102_1522-91delinsGCCCACTTCCAC
NM_058174.2:c.1522-102_1522-91delinsGCCCACTTCCAC	NP_478054.2:n.1522-102_1522-91delinsGCCCACTTCCAC
NM_058175.2:c.1522-102_1522-91delinsGCCCACTTCCAC	NP_478055.2:n.1522-102_1522-91delinsGCCCACTTCCAC
XM_011529451.1:c.1522-102_1522-91delinsGCCCACTTCCAC	XP_011527753.1:n.1522-102_1522-91delinsGCCCACTTCCAC
XM_011529452.1:c.1522-102_1522-91delinsGCCCACTTCCAC	XP_011527754.1:n.1522-102_1522-91delinsGCCCACTTCCAC
XR_937438.1:n.1645-102_1645-91delinsGCCCACTTCCAC
XR_937439.1:n.1645-102_1645-91delinsGCCCACTTCCAC
XR_937438.2:n.1652-102_1652-91delinsGCCCACTTCCAC
XR_937439.2:n.1652-102_1652-91delinsGCCCACTTCCAC
NM_001849.4:c.1522-102_1522-91delinsGCCCACTTCCAC MANE Select	NP_001840.3:n.1522-102_1522-91delinsGCCCACTTCCAC
NM_058174.3:c.1522-102_1522-91delinsGCCCACTTCCAC MANE Plus Clinical	NP_478054.2:n.1522-102_1522-91delinsGCCCACTTCCAC
NM_058175.3:c.1522-102_1522-91delinsGCCCACTTCCAC	NP_478055.2:n.1522-102_1522-91delinsGCCCACTTCCAC