Canonical Allele Identifier: CA2838407567

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566256del , CM000665.2:g.48566256del	GRCh38
NC_000003.11:g.48603689del , CM000665.1:g.48603689del	GRCh37
NC_000003.10:g.48578693del	NCBI36
NG_007065.1:g.33999del , LRG_286:g.33999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8407+13del MANE Select	ENSP00000506558.1:n.8407+13del
ENST00000328333.12:c.8407+13del	ENSP00000332371.8:n.8407+13del
ENST00000487017.5:n.5046+13del
NM_000094.3:c.8407+13del , LRG_286t1:c.8407+13del	NP_000085.1:n.8407+13del
XM_011533336.1:c.8434+13del	XP_011531638.1:n.8434+13del
XM_011533337.1:c.8407+13del	XP_011531639.1:n.8407+13del
XM_011533338.1:c.8374+13del	XP_011531640.1:n.8374+13del
XR_940369.1:n.8470+13del
XR_940370.1:n.8470+13del
XR_940371.1:n.8470+13del
XM_017005688.1:c.8347+13del	XP_016861177.1:n.8347+13del
XR_001740003.1:n.8443+13del
XR_001740004.1:n.8443+13del
XR_001740005.1:n.8443+13del
NM_000094.4:c.8407+13del MANE Select	NP_000085.1:n.8407+13del