Canonical Allele Identifier: CA2499216839

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1202254
• ClinVar RCV Id: RCV001567876
• dbSNP Id: rs2107672756

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575225_48575242del , CM000665.2:g.48575225_48575242del	GRCh38
NC_000003.11:g.48612658_48612675del , CM000665.1:g.48612658_48612675del	GRCh37
NC_000003.10:g.48587662_48587679del	NCBI36
NG_007065.1:g.25019_25036del , LRG_286:g.25019_25036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6189_6206del MANE Select	ENSP00000506558.1:p.Gly2064_Arg2069del
ENST00000328333.12:c.6189_6206del	ENSP00000332371.8:p.Gly2064_Arg2069del
ENST00000487017.5:n.2106_2123del
NM_000094.3:c.6189_6206del , LRG_286t1:c.6189_6206del	NP_000085.1:p.Gly2064_Arg2069del
XM_011533336.1:c.6216_6233del	XP_011531638.1:p.Gly2073_Arg2078del
XM_011533337.1:c.6189_6206del	XP_011531639.1:p.Gly2064_Arg2069del
XM_011533338.1:c.6216_6233del	XP_011531640.1:p.Gly2073_Arg2078del
XM_011533339.1:c.6216_6233del	XP_011531641.1:p.Gly2073_Arg2078del
XM_011533340.1:c.6216_6233del	XP_011531642.1:p.Gly2073_Arg2078del
XM_011533341.1:c.6216_6233del	XP_011531643.1:p.Gly2073_Arg2078del
XM_011533342.1:c.6216_6233del	XP_011531644.1:p.Gly2073_Arg2078del
XR_940369.1:n.6252_6269del
XR_940370.1:n.6252_6269del
XR_940371.1:n.6252_6269del
XR_940372.1:n.6252_6269del
XR_940373.1:n.6252_6269del
XR_940374.1:n.6252_6269del
XR_940375.1:n.6190_6207del
XM_017005688.1:c.6189_6206del	XP_016861177.1:p.Gly2064_Arg2069del
XM_017005689.1:c.6189_6206del	XP_016861178.1:p.Gly2064_Arg2069del
XM_017005690.1:c.6189_6206del	XP_016861179.1:p.Gly2064_Arg2069del
XM_017005691.1:c.6189_6206del	XP_016861180.1:p.Gly2064_Arg2069del
XM_017005692.1:c.6189_6206del	XP_016861181.1:p.Gly2064_Arg2069del
XR_001740003.1:n.6225_6242del
XR_001740004.1:n.6225_6242del
XR_001740005.1:n.6225_6242del
XR_001740006.1:n.6225_6242del
XR_001740007.1:n.6225_6242del
XR_001740008.1:n.6225_6242del
XR_001740009.1:n.6163_6180del
NM_000094.4:c.6189_6206del MANE Select	NP_000085.1:p.Gly2064_Arg2069del