Canonical Allele Identifier: CA2573137110

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1449692
• ClinVar RCV Id: RCV001989755
• dbSNP Id: rs2107637340

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568138del , CM000665.2:g.48568138del	GRCh38
NC_000003.11:g.48605571del , CM000665.1:g.48605571del	GRCh37
NC_000003.10:g.48580575del	NCBI36
NG_007065.1:g.32116del , LRG_286:g.32116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7828del MANE Select	ENSP00000506558.1:p.Arg2610GlufsTer21
ENST00000328333.12:c.7828del	ENSP00000332371.8:p.Arg2610GlufsTer21
ENST00000459756.5:n.651del
ENST00000487017.5:n.4467del
NM_000094.3:c.7828del , LRG_286t1:c.7828del	NP_000085.1:p.Arg2610GlufsTer21
XM_011533336.1:c.7855del	XP_011531638.1:p.Arg2619GlufsTer21
XM_011533337.1:c.7828del	XP_011531639.1:p.Arg2610GlufsTer21
XM_011533338.1:c.7795del	XP_011531640.1:p.Arg2599GlufsTer21
XR_940369.1:n.7891del
XR_940370.1:n.7891del
XR_940371.1:n.7891del
XR_940372.1:n.7865del
XM_017005688.1:c.7768del	XP_016861177.1:p.Arg2590GlufsTer21
XR_001740003.1:n.7864del
XR_001740004.1:n.7864del
XR_001740005.1:n.7864del
XR_001740006.1:n.7838del
NM_000094.4:c.7828del MANE Select	NP_000085.1:p.Arg2610GlufsTer21