Canonical Allele Identifier: CA10071177

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46111582_46111584del , CM000683.2:g.46111582_46111584del	GRCh38
NC_000021.8:g.47531496_47531498del , CM000683.1:g.47531496_47531498del	GRCh37
NC_000021.7:g.46355924_46355926del	NCBI36
NG_008675.1:g.18464_18466del , LRG_476:g.18464_18466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.106_108del MANE Plus Clinical	ENSP00000380870.1:p.Asn36del
ENST00000300527.9:c.106_108del MANE Select	ENSP00000300527.4:p.Asn36del
ENST00000409416.6:c.106_108del	ENSP00000387115.1:p.Asn36del
ENST00000300527.8:c.106_108del	ENSP00000300527.4:p.Asn36del
ENST00000310645.9:c.106_108del	ENSP00000312529.5:p.Asn36del
ENST00000397763.5:c.106_108del	ENSP00000380870.1:p.Asn36del
ENST00000409416.5:c.106_108del	ENSP00000387115.1:p.Asn36del
ENST00000436769.5:c.106_108del	ENSP00000390418.1:p.Asn36del
NM_001849.3:c.106_108del , LRG_476t1:c.106_108del	NP_001840.3:p.Asn36del
NM_058174.2:c.106_108del	NP_478054.2:p.Asn36del
NM_058175.2:c.106_108del	NP_478055.2:p.Asn36del
XM_011529451.1:c.106_108del	XP_011527753.1:p.Asn36del
XM_011529452.1:c.106_108del	XP_011527754.1:p.Asn36del
XR_937438.1:n.229_231del
XR_937439.1:n.229_231del
XR_937438.2:n.236_238del
XR_937439.2:n.236_238del
NM_001849.4:c.106_108del MANE Select	NP_001840.3:p.Asn36del
NM_058174.3:c.106_108del MANE Plus Clinical	NP_478054.2:p.Asn36del
NM_058175.3:c.106_108del	NP_478055.2:p.Asn36del