Canonical Allele Identifier: CA543045449

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564897_48564907del , CM000665.2:g.48564897_48564907del	GRCh38
NC_000003.11:g.48602330_48602340del , CM000665.1:g.48602330_48602340del	GRCh37
NC_000003.10:g.48577334_48577344del	NCBI36
NG_007065.1:g.35350_35360del , LRG_286:g.35350_35360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8698_8708del MANE Select	ENSP00000506558.1:p.Ser2900LeufsTer20
ENST00000328333.12:c.8698_8708del	ENSP00000332371.8:p.Ser2900LeufsTer20
ENST00000465238.5:n.117_127del
ENST00000466591.1:n.309_319del
ENST00000470076.1:n.90_100del
ENST00000487017.5:n.5337_5347del
NM_000094.3:c.8698_8708del , LRG_286t1:c.8698_8708del	NP_000085.1:p.Ser2900LeufsTer20
XM_011533336.1:c.8725_8735del	XP_011531638.1:p.Ser2909LeufsTer20
XM_011533337.1:c.8698_8708del	XP_011531639.1:p.Ser2900LeufsTer20
XM_011533338.1:c.8665_8675del	XP_011531640.1:p.Ser2889LeufsTer20
XR_940369.1:n.8834_8844del
XR_940370.1:n.8798_8808del
XR_940371.1:n.8795_8805del
XM_017005688.1:c.8638_8648del	XP_016861177.1:p.Ser2880LeufsTer20
XR_001740003.1:n.8807_8817del
XR_001740004.1:n.8771_8781del
XR_001740005.1:n.8768_8778del
NM_000094.4:c.8698_8708del MANE Select	NP_000085.1:p.Ser2900LeufsTer20