Canonical Allele Identifier: CA2586972321

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48583606_48583607del , CM000665.2:g.48583606_48583607del	GRCh38
NC_000003.11:g.48621039_48621040del , CM000665.1:g.48621039_48621040del	GRCh37
NC_000003.10:g.48596043_48596044del	NCBI36
NG_007065.1:g.16646_16647del , LRG_286:g.16646_16647del

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.4350_4351del MANE Select	NP_000085.1:p.Glu1451GlyfsTer15
ENST00000681320.1:c.4350_4351del MANE Select	ENSP00000506558.1:p.Glu1451GlyfsTer15
NM_000094.3:c.4350_4351del , LRG_286t1:c.4350_4351del	NP_000085.1:p.Glu1451GlyfsTer15
ENST00000328333.12:c.4350_4351del	ENSP00000332371.8:p.Glu1451GlyfsTer15
ENST00000487017.5:n.267_268del
XM_011533336.1:c.4377_4378del	XP_011531638.1:p.Glu1460GlyfsTer15
XM_011533337.1:c.4350_4351del	XP_011531639.1:p.Glu1451GlyfsTer15
XM_011533338.1:c.4377_4378del	XP_011531640.1:p.Glu1460GlyfsTer15
XM_011533339.1:c.4377_4378del	XP_011531641.1:p.Glu1460GlyfsTer15
XM_011533340.1:c.4377_4378del	XP_011531642.1:p.Glu1460GlyfsTer15
XM_011533341.1:c.4377_4378del	XP_011531643.1:p.Glu1460GlyfsTer15
XM_011533342.1:c.4377_4378del	XP_011531644.1:p.Glu1460GlyfsTer15
XM_017005688.1:c.4350_4351del	XP_016861177.1:p.Glu1451GlyfsTer15
XM_017005689.1:c.4350_4351del	XP_016861178.1:p.Glu1451GlyfsTer15
XM_017005690.1:c.4350_4351del	XP_016861179.1:p.Glu1451GlyfsTer15
XM_017005691.1:c.4350_4351del	XP_016861180.1:p.Glu1451GlyfsTer15
XM_017005692.1:c.4350_4351del	XP_016861181.1:p.Glu1451GlyfsTer15
XR_001740003.1:n.4386_4387del
XR_001740004.1:n.4386_4387del
XR_001740005.1:n.4386_4387del
XR_001740006.1:n.4386_4387del
XR_001740007.1:n.4386_4387del
XR_001740008.1:n.4386_4387del
XR_001740009.1:n.4386_4387del
XR_940369.1:n.4413_4414del
XR_940370.1:n.4413_4414del
XR_940371.1:n.4413_4414del
XR_940372.1:n.4413_4414del
XR_940373.1:n.4413_4414del
XR_940374.1:n.4413_4414del
XR_940375.1:n.4413_4414del