Canonical Allele Identifier: CA1363085012

Gene: COL7A1

Linked Data

• dbSNP Id: rs2045592605
• gnomAD v4: 3-48590211-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48590214del , CM000665.2:g.48590214del	GRCh38
NC_000003.11:g.48627647del , CM000665.1:g.48627647del	GRCh37
NC_000003.10:g.48602651del	NCBI36
NG_007065.1:g.10041del , LRG_286:g.10041del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.2050+1del
ENST00000328333.12:c.2050+1del
NM_000094.3:c.2050+1del , LRG_286t1:c.2050+1del
XM_011533336.1:c.2050+1del
XM_011533337.1:c.2050+1del
XM_011533338.1:c.2050+1del
XM_011533339.1:c.2050+1del
XM_011533340.1:c.2050+1del
XM_011533341.1:c.2050+1del
XM_011533342.1:c.2050+1del
XR_940369.1:n.2086+1del
XR_940370.1:n.2086+1del
XR_940371.1:n.2086+1del
XR_940372.1:n.2086+1del
XR_940373.1:n.2086+1del
XR_940374.1:n.2086+1del
XR_940375.1:n.2086+1del
XM_017005688.1:c.2050+1del
XM_017005689.1:c.2050+1del
XM_017005690.1:c.2050+1del
XM_017005691.1:c.2050+1del
XM_017005692.1:c.2050+1del
XR_001740003.1:n.2086+1del
XR_001740004.1:n.2086+1del
XR_001740005.1:n.2086+1del
XR_001740006.1:n.2086+1del
XR_001740007.1:n.2086+1del
XR_001740008.1:n.2086+1del
XR_001740009.1:n.2086+1del
NM_000094.4:c.2050+1del