Canonical Allele Identifier: CA2499216843

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1292043
• ClinVar RCV Id: RCV001714246
• dbSNP Id: rs2107674323

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575419del , CM000665.2:g.48575419del	GRCh38
NC_000003.11:g.48612852del , CM000665.1:g.48612852del	GRCh37
NC_000003.10:g.48587856del	NCBI36
NG_007065.1:g.24837del , LRG_286:g.24837del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.6103del MANE Select	ENSP00000506558.1:p.Glu2035SerfsTer?
ENST00000328333.12:c.6103del	ENSP00000332371.8:p.Glu2035SerfsTer?
ENST00000487017.5:n.2020del
NM_000094.3:c.6103del , LRG_286t1:c.6103del	NP_000085.1:p.Glu2035SerfsTer?
XM_011533336.1:c.6130del	XP_011531638.1:p.Glu2044SerfsTer?
XM_011533337.1:c.6103del	XP_011531639.1:p.Glu2035SerfsTer?
XM_011533338.1:c.6130del	XP_011531640.1:p.Glu2044SerfsTer?
XM_011533339.1:c.6130del	XP_011531641.1:p.Glu2044SerfsTer?
XM_011533340.1:c.6130del	XP_011531642.1:p.Glu2044SerfsTer?
XM_011533341.1:c.6130del	XP_011531643.1:p.Glu2044SerfsTer?
XM_011533342.1:c.6130del	XP_011531644.1:p.Glu2044SerfsTer?
XR_940369.1:n.6166del
XR_940370.1:n.6166del
XR_940371.1:n.6166del
XR_940372.1:n.6166del
XR_940373.1:n.6166del
XR_940374.1:n.6166del
XR_940375.1:n.6166del
XM_017005688.1:c.6103del	XP_016861177.1:p.Glu2035SerfsTer?
XM_017005689.1:c.6103del	XP_016861178.1:p.Glu2035SerfsTer?
XM_017005690.1:c.6103del	XP_016861179.1:p.Glu2035SerfsTer?
XM_017005691.1:c.6103del	XP_016861180.1:p.Glu2035SerfsTer?
XM_017005692.1:c.6103del	XP_016861181.1:p.Glu2035SerfsTer?
XR_001740003.1:n.6139del
XR_001740004.1:n.6139del
XR_001740005.1:n.6139del
XR_001740006.1:n.6139del
XR_001740007.1:n.6139del
XR_001740008.1:n.6139del
XR_001740009.1:n.6139del
NM_000094.4:c.6103del MANE Select	NP_000085.1:p.Glu2035SerfsTer?