Canonical Allele Identifier: CA2380360

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 372332
• ClinVar RCV Id: RCV000413788 ; RCV000477818 ; RCV001272362 ; RCV002278635 ; RCV003318573
• dbSNP Id: rs757688782
• ExAC: 3:48623043 CG / C
• gnomAD v2: 3-48623043-CG-C
• gnomAD v3: 3-48585610-CG-C
• gnomAD v4: 3-48585610-CG-C
• MyVariant Identifiers: chr3:g.48623044del (hg19) ; chr3:g.48585611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48585612del , CM000665.2:g.48585612del	GRCh38
NC_000003.11:g.48623045del , CM000665.1:g.48623045del	GRCh37
NC_000003.10:g.48598049del	NCBI36
NG_007065.1:g.14642del , LRG_286:g.14642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.3840del MANE Select	ENSP00000506558.1:p.Gly1281ValfsTer?
ENST00000328333.12:c.3840del	ENSP00000332371.8:p.Gly1281ValfsTer?
NM_000094.3:c.3840del , LRG_286t1:c.3840del	NP_000085.1:p.Gly1281ValfsTer?
XM_011533336.1:c.3867del	XP_011531638.1:p.Gly1290ValfsTer?
XM_011533337.1:c.3840del	XP_011531639.1:p.Gly1281ValfsTer?
XM_011533338.1:c.3867del	XP_011531640.1:p.Gly1290ValfsTer?
XM_011533339.1:c.3867del	XP_011531641.1:p.Gly1290ValfsTer?
XM_011533340.1:c.3867del	XP_011531642.1:p.Gly1290ValfsTer?
XM_011533341.1:c.3867del	XP_011531643.1:p.Gly1290ValfsTer?
XM_011533342.1:c.3867del	XP_011531644.1:p.Gly1290ValfsTer?
XR_940369.1:n.3903del
XR_940370.1:n.3903del
XR_940371.1:n.3903del
XR_940372.1:n.3903del
XR_940373.1:n.3903del
XR_940374.1:n.3903del
XR_940375.1:n.3903del
XM_017005688.1:c.3840del	XP_016861177.1:p.Gly1281ValfsTer?
XM_017005689.1:c.3840del	XP_016861178.1:p.Gly1281ValfsTer?
XM_017005690.1:c.3840del	XP_016861179.1:p.Gly1281ValfsTer?
XM_017005691.1:c.3840del	XP_016861180.1:p.Gly1281ValfsTer?
XM_017005692.1:c.3840del	XP_016861181.1:p.Gly1281ValfsTer?
XR_001740003.1:n.3876del
XR_001740004.1:n.3876del
XR_001740005.1:n.3876del
XR_001740006.1:n.3876del
XR_001740007.1:n.3876del
XR_001740008.1:n.3876del
XR_001740009.1:n.3876del
NM_000094.4:c.3840del MANE Select	NP_000085.1:p.Gly1281ValfsTer?