Canonical Allele Identifier: CA2739278453

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2843453
• ClinVar RCV Id: RCV003723951

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48572666_48572673del , CM000665.2:g.48572666_48572673del	GRCh38
NC_000003.11:g.48610099_48610106del , CM000665.1:g.48610099_48610106del	GRCh37
NC_000003.10:g.48585103_48585110del	NCBI36
NG_007065.1:g.27581_27588del , LRG_286:g.27581_27588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6899_6900+6del
ENST00000328333.12:c.6899_6900+6del
ENST00000487017.5:n.2816_2817+6del
NM_000094.3:c.6899_6900+6del , LRG_286t1:c.6899_6900+6del
XM_011533336.1:c.6926_6927+6del
XM_011533337.1:c.6899_6900+6del
XM_011533338.1:c.6926_6927+6del
XM_011533339.1:c.6926_6927+6del
XM_011533340.1:c.6926_6927+6del
XM_011533341.1:c.6926_6927+6del
XM_011533342.1:c.6926_6927+6del
XR_940369.1:n.6962_6963+6del
XR_940370.1:n.6962_6963+6del
XR_940371.1:n.6962_6963+6del
XR_940372.1:n.6962_6963+6del
XR_940373.1:n.6962_6963+6del
XR_940374.1:n.6972_6973+6del
XM_017005688.1:c.6899_6900+6del
XM_017005689.1:c.6899_6900+6del
XM_017005690.1:c.6899_6900+6del
XM_017005691.1:c.6899_6900+6del
XM_017005692.1:c.6899_6900+6del
XR_001740003.1:n.6935_6936+6del
XR_001740004.1:n.6935_6936+6del
XR_001740005.1:n.6935_6936+6del
XR_001740006.1:n.6935_6936+6del
XR_001740007.1:n.6935_6936+6del
XR_001740008.1:n.6945_6946+6del
NM_000094.4:c.6899_6900+6del