Canonical Allele Identifier: CA2665621913

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570276-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570278del , CM000665.2:g.48570278del	GRCh38
NC_000003.11:g.48607711del , CM000665.1:g.48607711del	GRCh37
NC_000003.10:g.48582715del	NCBI36
NG_007065.1:g.29976del , LRG_286:g.29976del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7438del MANE Select	ENSP00000506558.1:p.Arg2480GlyfsTer?
ENST00000328333.12:c.7438del	ENSP00000332371.8:p.Arg2480GlyfsTer?
ENST00000422991.1:c.433del	ENSP00000391608.1:p.Arg145GlyfsTer?
ENST00000459756.5:n.165del
ENST00000467985.1:n.188del
ENST00000487017.5:n.4077del
NM_000094.3:c.7438del , LRG_286t1:c.7438del	NP_000085.1:p.Arg2480GlyfsTer?
XM_011533336.1:c.7465del	XP_011531638.1:p.Arg2489GlyfsTer?
XM_011533337.1:c.7438del	XP_011531639.1:p.Arg2480GlyfsTer?
XM_011533338.1:c.7408-99del	XP_011531640.1:n.7408-99del
XM_011533339.1:c.7465del	XP_011531641.1:p.Arg2489GlyfsTer?
XM_011533340.1:c.7408-25del	XP_011531642.1:n.7408-25del
XM_011533341.1:c.7382-25del	XP_011531643.1:n.7382-25del
XM_011533342.1:c.7382-99del	XP_011531644.1:n.7382-99del
XR_940369.1:n.7501del
XR_940370.1:n.7501del
XR_940371.1:n.7501del
XR_940372.1:n.7475del
XM_017005688.1:c.7381-99del	XP_016861177.1:n.7381-99del
XM_017005689.1:c.7438del	XP_016861178.1:p.Arg2480GlyfsTer?
XM_017005690.1:c.7381-25del	XP_016861179.1:n.7381-25del
XM_017005691.1:c.7355-25del	XP_016861180.1:n.7355-25del
XM_017005692.1:c.7355-99del	XP_016861181.1:n.7355-99del
XR_001740003.1:n.7474del
XR_001740004.1:n.7474del
XR_001740005.1:n.7474del
XR_001740006.1:n.7448del
NM_000094.4:c.7438del MANE Select	NP_000085.1:p.Arg2480GlyfsTer?