Canonical Allele Identifier: CA645522628

Gene: COL7A1

Linked Data

• dbSNP Id: rs1560196100
• COSMIC: COSM5958987

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567610del , CM000665.2:g.48567610del	GRCh38
NC_000003.11:g.48605043del , CM000665.1:g.48605043del	GRCh37
NC_000003.10:g.48580047del	NCBI36
NG_007065.1:g.32647del , LRG_286:g.32647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8014del MANE Select	ENSP00000506558.1:p.Ala2672ProfsTer7
ENST00000328333.12:c.8014del	ENSP00000332371.8:p.Ala2672ProfsTer7
ENST00000487017.5:n.4653del
NM_000094.3:c.8014del , LRG_286t1:c.8014del	NP_000085.1:p.Ala2672ProfsTer7
XM_011533336.1:c.8041del	XP_011531638.1:p.Ala2681ProfsTer7
XM_011533337.1:c.8014del	XP_011531639.1:p.Ala2672ProfsTer7
XM_011533338.1:c.7981del	XP_011531640.1:p.Ala2661ProfsTer7
XR_940369.1:n.8077del
XR_940370.1:n.8077del
XR_940371.1:n.8077del
XM_017005688.1:c.7954del	XP_016861177.1:p.Ala2652ProfsTer7
XR_001740003.1:n.8050del
XR_001740004.1:n.8050del
XR_001740005.1:n.8050del
NM_000094.4:c.8014del MANE Select	NP_000085.1:p.Ala2672ProfsTer7