Canonical Allele Identifier: CA2573137126

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1509932
• ClinVar RCV Id: RCV002011392
• dbSNP Id: rs2107657268
• gnomAD v4: 3-48572535-CAGCCTGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48572536_48572543del , CM000665.2:g.48572536_48572543del	GRCh38
NC_000003.11:g.48609969_48609976del , CM000665.1:g.48609969_48609976del	GRCh37
NC_000003.10:g.48584973_48584980del	NCBI36
NG_007065.1:g.27710_27717del , LRG_286:g.27710_27717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6901-5_6903del
ENST00000328333.12:c.6901-5_6903del
ENST00000487017.5:n.2818-5_2820del
NM_000094.3:c.6901-5_6903del , LRG_286t1:c.6901-5_6903del
XM_011533336.1:c.6928-5_6930del
XM_011533337.1:c.6901-5_6903del
XM_011533338.1:c.6928-5_6930del
XM_011533339.1:c.6928-5_6930del
XM_011533340.1:c.6928-5_6930del
XM_011533341.1:c.6928-5_6930del
XM_011533342.1:c.6928-5_6930del
XR_940369.1:n.6964-5_6966del
XR_940370.1:n.6964-5_6966del
XR_940371.1:n.6964-5_6966del
XR_940372.1:n.6964-5_6966del
XR_940373.1:n.6964-5_6966del
XR_940374.1:n.6974-5_6976del
XM_017005688.1:c.6901-5_6903del
XM_017005689.1:c.6901-5_6903del
XM_017005690.1:c.6901-5_6903del
XM_017005691.1:c.6901-5_6903del
XM_017005692.1:c.6901-5_6903del
XR_001740003.1:n.6937-5_6939del
XR_001740004.1:n.6937-5_6939del
XR_001740005.1:n.6937-5_6939del
XR_001740006.1:n.6937-5_6939del
XR_001740007.1:n.6937-5_6939del
XR_001740008.1:n.6947-5_6949del
NM_000094.4:c.6901-5_6903del