Canonical Allele Identifier: CA658796304

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 504437
• ClinVar RCV Id: RCV000599125
• dbSNP Id: rs1553853012
• MyVariant Identifiers: chr3:g.48610123_48610149del (hg19) ; chr3:g.48572690_48572716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48572698_48572724del , CM000665.2:g.48572698_48572724del	GRCh38
NC_000003.11:g.48610131_48610157del , CM000665.1:g.48610131_48610157del	GRCh37
NC_000003.10:g.48585135_48585161del	NCBI36
NG_007065.1:g.27537_27563del , LRG_286:g.27537_27563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6855_6881del MANE Select	ENSP00000506558.1:p.Val2286_Pro2294del
ENST00000328333.12:c.6855_6881del	ENSP00000332371.8:p.Val2286_Pro2294del
ENST00000487017.5:n.2772_2798del
NM_000094.3:c.6855_6881del , LRG_286t1:c.6855_6881del	NP_000085.1:p.Val2286_Pro2294del
XM_011533336.1:c.6882_6908del	XP_011531638.1:p.Val2295_Pro2303del
XM_011533337.1:c.6855_6881del	XP_011531639.1:p.Val2286_Pro2294del
XM_011533338.1:c.6882_6908del	XP_011531640.1:p.Val2295_Pro2303del
XM_011533339.1:c.6882_6908del	XP_011531641.1:p.Val2295_Pro2303del
XM_011533340.1:c.6882_6908del	XP_011531642.1:p.Val2295_Pro2303del
XM_011533341.1:c.6882_6908del	XP_011531643.1:p.Val2295_Pro2303del
XM_011533342.1:c.6882_6908del	XP_011531644.1:p.Val2295_Pro2303del
XR_940369.1:n.6918_6944del
XR_940370.1:n.6918_6944del
XR_940371.1:n.6918_6944del
XR_940372.1:n.6918_6944del
XR_940373.1:n.6918_6944del
XR_940374.1:n.6928_6954del
XM_017005688.1:c.6855_6881del	XP_016861177.1:p.Val2286_Pro2294del
XM_017005689.1:c.6855_6881del	XP_016861178.1:p.Val2286_Pro2294del
XM_017005690.1:c.6855_6881del	XP_016861179.1:p.Val2286_Pro2294del
XM_017005691.1:c.6855_6881del	XP_016861180.1:p.Val2286_Pro2294del
XM_017005692.1:c.6855_6881del	XP_016861181.1:p.Val2286_Pro2294del
XR_001740003.1:n.6891_6917del
XR_001740004.1:n.6891_6917del
XR_001740005.1:n.6891_6917del
XR_001740006.1:n.6891_6917del
XR_001740007.1:n.6891_6917del
XR_001740008.1:n.6901_6927del
NM_000094.4:c.6855_6881del MANE Select	NP_000085.1:p.Val2286_Pro2294del