Canonical Allele Identifier: CA2586972162

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565457_48565479del , CM000665.2:g.48565457_48565479del	GRCh38
NC_000003.11:g.48602890_48602912del , CM000665.1:g.48602890_48602912del	GRCh37
NC_000003.10:g.48577894_48577916del	NCBI36
NG_007065.1:g.34777_34799del , LRG_286:g.34777_34799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8461_8483del MANE Select	ENSP00000506558.1:p.Ala2821ProfsTer20
ENST00000328333.12:c.8461_8483del	ENSP00000332371.8:p.Ala2821ProfsTer20
ENST00000487017.5:n.5100_5122del
NM_000094.3:c.8461_8483del , LRG_286t1:c.8461_8483del	NP_000085.1:p.Ala2821ProfsTer20
XM_011533336.1:c.8488_8510del	XP_011531638.1:p.Ala2830ProfsTer20
XM_011533337.1:c.8461_8483del	XP_011531639.1:p.Ala2821ProfsTer20
XM_011533338.1:c.8428_8450del	XP_011531640.1:p.Ala2810ProfsTer20
XR_940369.1:n.8524_8546del
XR_940370.1:n.8524_8546del
XR_940371.1:n.8524_8546del
XM_017005688.1:c.8401_8423del	XP_016861177.1:p.Ala2801ProfsTer20
XR_001740003.1:n.8497_8519del
XR_001740004.1:n.8497_8519del
XR_001740005.1:n.8497_8519del
NM_000094.4:c.8461_8483del MANE Select	NP_000085.1:p.Ala2821ProfsTer20