Canonical Allele Identifier: CA2523193499

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1180763
• ClinVar RCV Id: RCV001814492 ; RCV003558838 ; RCV003328126
• dbSNP Id: rs2044195570
• gnomAD v4: 3-48575073-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575078del , CM000665.2:g.48575078del	GRCh38
NC_000003.11:g.48612511del , CM000665.1:g.48612511del	GRCh37
NC_000003.10:g.48587515del	NCBI36
NG_007065.1:g.25179del , LRG_286:g.25179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6269del MANE Select	ENSP00000506558.1:p.Pro2090LeufsTer?
ENST00000328333.12:c.6269del	ENSP00000332371.8:p.Pro2090LeufsTer?
ENST00000487017.5:n.2186del
NM_000094.3:c.6269del , LRG_286t1:c.6269del	NP_000085.1:p.Pro2090LeufsTer?
XM_011533336.1:c.6296del	XP_011531638.1:p.Pro2099LeufsTer?
XM_011533337.1:c.6269del	XP_011531639.1:p.Pro2090LeufsTer?
XM_011533338.1:c.6296del	XP_011531640.1:p.Pro2099LeufsTer?
XM_011533339.1:c.6296del	XP_011531641.1:p.Pro2099LeufsTer?
XM_011533340.1:c.6296del	XP_011531642.1:p.Pro2099LeufsTer?
XM_011533341.1:c.6296del	XP_011531643.1:p.Pro2099LeufsTer?
XM_011533342.1:c.6296del	XP_011531644.1:p.Pro2099LeufsTer?
XR_940369.1:n.6332del
XR_940370.1:n.6332del
XR_940371.1:n.6332del
XR_940372.1:n.6332del
XR_940373.1:n.6332del
XR_940374.1:n.6332del
XR_940375.1:n.6270del
XM_017005688.1:c.6269del	XP_016861177.1:p.Pro2090LeufsTer?
XM_017005689.1:c.6269del	XP_016861178.1:p.Pro2090LeufsTer?
XM_017005690.1:c.6269del	XP_016861179.1:p.Pro2090LeufsTer?
XM_017005691.1:c.6269del	XP_016861180.1:p.Pro2090LeufsTer?
XM_017005692.1:c.6269del	XP_016861181.1:p.Pro2090LeufsTer?
XR_001740003.1:n.6305del
XR_001740004.1:n.6305del
XR_001740005.1:n.6305del
XR_001740006.1:n.6305del
XR_001740007.1:n.6305del
XR_001740008.1:n.6305del
XR_001740009.1:n.6243del
NM_000094.4:c.6269del MANE Select	NP_000085.1:p.Pro2090LeufsTer?