Canonical Allele Identifier: CA2499216824

Gene: COL7A1

Linked Data

• dbSNP Id: rs2107634969

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567592del , CM000665.2:g.48567592del	GRCh38
NC_000003.11:g.48605025del , CM000665.1:g.48605025del	GRCh37
NC_000003.10:g.48580029del	NCBI36
NG_007065.1:g.32663del , LRG_286:g.32663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8030del MANE Select	ENSP00000506558.1:p.Gly2677AlafsTer2
ENST00000328333.12:c.8030del	ENSP00000332371.8:p.Gly2677AlafsTer2
ENST00000487017.5:n.4669del
NM_000094.3:c.8030del , LRG_286t1:c.8030del	NP_000085.1:p.Gly2677AlafsTer2
XM_011533336.1:c.8057del	XP_011531638.1:p.Gly2686AlafsTer2
XM_011533337.1:c.8030del	XP_011531639.1:p.Gly2677AlafsTer2
XM_011533338.1:c.7997del	XP_011531640.1:p.Gly2666AlafsTer2
XR_940369.1:n.8093del
XR_940370.1:n.8093del
XR_940371.1:n.8093del
XM_017005688.1:c.7970del	XP_016861177.1:p.Gly2657AlafsTer2
XR_001740003.1:n.8066del
XR_001740004.1:n.8066del
XR_001740005.1:n.8066del
NM_000094.4:c.8030del MANE Select	NP_000085.1:p.Gly2677AlafsTer2