Canonical Allele Identifier: CA2586972197

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567865_48567891del , CM000665.2:g.48567865_48567891del	GRCh38
NC_000003.11:g.48605298_48605324del , CM000665.1:g.48605298_48605324del	GRCh37
NC_000003.10:g.48580302_48580328del	NCBI36
NG_007065.1:g.32364_32390del , LRG_286:g.32364_32390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7878_7904del MANE Select	ENSP00000506558.1:p.Glu2627_Gly2635del
ENST00000328333.12:c.7878_7904del	ENSP00000332371.8:p.Glu2627_Gly2635del
ENST00000459756.5:n.701_727del
ENST00000487017.5:n.4517_4543del
NM_000094.3:c.7878_7904del , LRG_286t1:c.7878_7904del	NP_000085.1:p.Glu2627_Gly2635del
XM_011533336.1:c.7905_7931del	XP_011531638.1:p.Glu2636_Gly2644del
XM_011533337.1:c.7878_7904del	XP_011531639.1:p.Glu2627_Gly2635del
XM_011533338.1:c.7845_7871del	XP_011531640.1:p.Glu2616_Gly2624del
XR_940369.1:n.7941_7967del
XR_940370.1:n.7941_7967del
XR_940371.1:n.7941_7967del
XM_017005688.1:c.7818_7844del	XP_016861177.1:p.Glu2607_Gly2615del
XR_001740003.1:n.7914_7940del
XR_001740004.1:n.7914_7940del
XR_001740005.1:n.7914_7940del
NM_000094.4:c.7878_7904del MANE Select	NP_000085.1:p.Glu2627_Gly2635del