Canonical Allele Identifier: CA2665620142

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568790-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568793del , CM000665.2:g.48568793del	GRCh38
NC_000003.11:g.48606226del , CM000665.1:g.48606226del	GRCh37
NC_000003.10:g.48581230del	NCBI36
NG_007065.1:g.31462del , LRG_286:g.31462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7751del MANE Select	ENSP00000506558.1:p.Gly2584AspfsTer?
ENST00000328333.12:c.7751del	ENSP00000332371.8:p.Gly2584AspfsTer?
ENST00000459756.5:n.574del
ENST00000467985.1:n.597del
ENST00000487017.5:n.4390del
NM_000094.3:c.7751del , LRG_286t1:c.7751del	NP_000085.1:p.Gly2584AspfsTer?
XM_011533336.1:c.7778del	XP_011531638.1:p.Gly2593AspfsTer?
XM_011533337.1:c.7751del	XP_011531639.1:p.Gly2584AspfsTer?
XM_011533338.1:c.7718del	XP_011531640.1:p.Gly2573AspfsTer?
XM_011533339.1:c.7778del	XP_011531641.1:p.Gly2593AspfsTer?
XR_940369.1:n.7814del
XR_940370.1:n.7814del
XR_940371.1:n.7814del
XR_940372.1:n.7788del
XM_017005688.1:c.7691del	XP_016861177.1:p.Gly2564AspfsTer?
XM_017005689.1:c.7751del	XP_016861178.1:p.Gly2584AspfsTer?
XR_001740003.1:n.7787del
XR_001740004.1:n.7787del
XR_001740005.1:n.7787del
XR_001740006.1:n.7761del
NM_000094.4:c.7751del MANE Select	NP_000085.1:p.Gly2584AspfsTer?