Canonical Allele Identifier: CA915942483

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 817763
• ClinVar RCV Id: RCV001008978
• dbSNP Id: rs1575439903

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575478del , CM000665.2:g.48575478del	GRCh38
NC_000003.11:g.48612911del , CM000665.1:g.48612911del	GRCh37
NC_000003.10:g.48587915del	NCBI36
NG_007065.1:g.24775del , LRG_286:g.24775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6041del MANE Select	ENSP00000506558.1:p.Gln2014ArgfsTer?
ENST00000328333.12:c.6041del	ENSP00000332371.8:p.Gln2014ArgfsTer?
ENST00000487017.5:n.1958del
NM_000094.3:c.6041del , LRG_286t1:c.6041del	NP_000085.1:p.Gln2014ArgfsTer?
XM_011533336.1:c.6068del	XP_011531638.1:p.Gln2023ArgfsTer?
XM_011533337.1:c.6041del	XP_011531639.1:p.Gln2014ArgfsTer?
XM_011533338.1:c.6068del	XP_011531640.1:p.Gln2023ArgfsTer?
XM_011533339.1:c.6068del	XP_011531641.1:p.Gln2023ArgfsTer?
XM_011533340.1:c.6068del	XP_011531642.1:p.Gln2023ArgfsTer?
XM_011533341.1:c.6068del	XP_011531643.1:p.Gln2023ArgfsTer?
XM_011533342.1:c.6068del	XP_011531644.1:p.Gln2023ArgfsTer?
XR_940369.1:n.6104del
XR_940370.1:n.6104del
XR_940371.1:n.6104del
XR_940372.1:n.6104del
XR_940373.1:n.6104del
XR_940374.1:n.6104del
XR_940375.1:n.6104del
XM_017005688.1:c.6041del	XP_016861177.1:p.Gln2014ArgfsTer?
XM_017005689.1:c.6041del	XP_016861178.1:p.Gln2014ArgfsTer?
XM_017005690.1:c.6041del	XP_016861179.1:p.Gln2014ArgfsTer?
XM_017005691.1:c.6041del	XP_016861180.1:p.Gln2014ArgfsTer?
XM_017005692.1:c.6041del	XP_016861181.1:p.Gln2014ArgfsTer?
XR_001740003.1:n.6077del
XR_001740004.1:n.6077del
XR_001740005.1:n.6077del
XR_001740006.1:n.6077del
XR_001740007.1:n.6077del
XR_001740008.1:n.6077del
XR_001740009.1:n.6077del
NM_000094.4:c.6041del MANE Select	NP_000085.1:p.Gln2014ArgfsTer?