Canonical Allele Identifier: CA2573137019

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1502097
• ClinVar RCV Id: RCV002020064
• dbSNP Id: rs2107690909

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48578314_48578324del , CM000665.2:g.48578314_48578324del	GRCh38
NC_000003.11:g.48615747_48615757del , CM000665.1:g.48615747_48615757del	GRCh37
NC_000003.10:g.48590751_48590761del	NCBI36
NG_007065.1:g.21929_21939del , LRG_286:g.21929_21939del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.5529_5532+7del
ENST00000328333.12:c.5529_5532+7del
ENST00000487017.5:n.1446_1449+7del
NM_000094.3:c.5529_5532+7del , LRG_286t1:c.5529_5532+7del
XM_011533336.1:c.5556_5559+7del
XM_011533337.1:c.5529_5532+7del
XM_011533338.1:c.5556_5559+7del
XM_011533339.1:c.5556_5559+7del
XM_011533340.1:c.5556_5559+7del
XM_011533341.1:c.5556_5559+7del
XM_011533342.1:c.5556_5559+7del
XR_940369.1:n.5592_5595+7del
XR_940370.1:n.5592_5595+7del
XR_940371.1:n.5592_5595+7del
XR_940372.1:n.5592_5595+7del
XR_940373.1:n.5592_5595+7del
XR_940374.1:n.5592_5595+7del
XR_940375.1:n.5592_5595+7del
XM_017005688.1:c.5529_5532+7del
XM_017005689.1:c.5529_5532+7del
XM_017005690.1:c.5529_5532+7del
XM_017005691.1:c.5529_5532+7del
XM_017005692.1:c.5529_5532+7del
XR_001740003.1:n.5565_5568+7del
XR_001740004.1:n.5565_5568+7del
XR_001740005.1:n.5565_5568+7del
XR_001740006.1:n.5565_5568+7del
XR_001740007.1:n.5565_5568+7del
XR_001740008.1:n.5565_5568+7del
XR_001740009.1:n.5565_5568+7del
NM_000094.4:c.5529_5532+7del