Canonical Allele Identifier: CA2702732536

Gene: COL7A1

Linked Data

• dbSNP Id: rs2107671792

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575090_48575091insGGGGGGGCGGGGGGGCCC , CM000665.2:g.48575090_48575091insGGGGGGGCGGGGGGGCCC	GRCh38
NC_000003.11:g.48612523_48612524insGGGGGGGCGGGGGGGCCC , CM000665.1:g.48612523_48612524insGGGGGGGCGGGGGGGCCC	GRCh37
NC_000003.10:g.48587527_48587528insGGGGGGGCGGGGGGGCCC	NCBI36
NG_007065.1:g.25171_25172insCGCCCCCCCGGGCCCCCC , LRG_286:g.25171_25172insCGCCCCCCCGGGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6261_6262insCGCCCCCCCGGGCCCCCC MANE Select	ENSP00000506558.1:p.Pro2087_Gly2088insArgProProGlyProPro
ENST00000328333.12:c.6261_6262insCGCCCCCCCGGGCCCCCC	ENSP00000332371.8:p.Pro2087_Gly2088insArgProProGlyProPro
ENST00000487017.5:n.2178_2179insCGCCCCCCCGGGCCCCCC
NM_000094.3:c.6261_6262insCGCCCCCCCGGGCCCCCC , LRG_286t1:c.6261_6262insCGCCCCCCCGGGCCCCCC	NP_000085.1:p.Pro2087_Gly2088insArgProProGlyProPro
XM_011533336.1:c.6288_6289insCGCCCCCCCGGGCCCCCC	XP_011531638.1:p.Pro2096_Gly2097insArgProProGlyProPro
XM_011533337.1:c.6261_6262insCGCCCCCCCGGGCCCCCC	XP_011531639.1:p.Pro2087_Gly2088insArgProProGlyProPro
XM_011533338.1:c.6288_6289insCGCCCCCCCGGGCCCCCC	XP_011531640.1:p.Pro2096_Gly2097insArgProProGlyProPro
XM_011533339.1:c.6288_6289insCGCCCCCCCGGGCCCCCC	XP_011531641.1:p.Pro2096_Gly2097insArgProProGlyProPro
XM_011533340.1:c.6288_6289insCGCCCCCCCGGGCCCCCC	XP_011531642.1:p.Pro2096_Gly2097insArgProProGlyProPro
XM_011533341.1:c.6288_6289insCGCCCCCCCGGGCCCCCC	XP_011531643.1:p.Pro2096_Gly2097insArgProProGlyProPro
XM_011533342.1:c.6288_6289insCGCCCCCCCGGGCCCCCC	XP_011531644.1:p.Pro2096_Gly2097insArgProProGlyProPro
XR_940369.1:n.6324_6325insCGCCCCCCCGGGCCCCCC
XR_940370.1:n.6324_6325insCGCCCCCCCGGGCCCCCC
XR_940371.1:n.6324_6325insCGCCCCCCCGGGCCCCCC
XR_940372.1:n.6324_6325insCGCCCCCCCGGGCCCCCC
XR_940373.1:n.6324_6325insCGCCCCCCCGGGCCCCCC
XR_940374.1:n.6324_6325insCGCCCCCCCGGGCCCCCC
XR_940375.1:n.6262_6263insCGCCCCCCCGGGCCCCCC
XM_017005688.1:c.6261_6262insCGCCCCCCCGGGCCCCCC	XP_016861177.1:p.Pro2087_Gly2088insArgProProGlyProPro
XM_017005689.1:c.6261_6262insCGCCCCCCCGGGCCCCCC	XP_016861178.1:p.Pro2087_Gly2088insArgProProGlyProPro
XM_017005690.1:c.6261_6262insCGCCCCCCCGGGCCCCCC	XP_016861179.1:p.Pro2087_Gly2088insArgProProGlyProPro
XM_017005691.1:c.6261_6262insCGCCCCCCCGGGCCCCCC	XP_016861180.1:p.Pro2087_Gly2088insArgProProGlyProPro
XM_017005692.1:c.6261_6262insCGCCCCCCCGGGCCCCCC	XP_016861181.1:p.Pro2087_Gly2088insArgProProGlyProPro
XR_001740003.1:n.6297_6298insCGCCCCCCCGGGCCCCCC
XR_001740004.1:n.6297_6298insCGCCCCCCCGGGCCCCCC
XR_001740005.1:n.6297_6298insCGCCCCCCCGGGCCCCCC
XR_001740006.1:n.6297_6298insCGCCCCCCCGGGCCCCCC
XR_001740007.1:n.6297_6298insCGCCCCCCCGGGCCCCCC
XR_001740008.1:n.6297_6298insCGCCCCCCCGGGCCCCCC
XR_001740009.1:n.6235_6236insCGCCCCCCCGGGCCCCCC
NM_000094.4:c.6261_6262insCGCCCCCCCGGGCCCCCC MANE Select	NP_000085.1:p.Pro2087_Gly2088insArgProProGlyProPro