Canonical Allele Identifier: CA2580070090

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1676613
• ClinVar RCV Id: RCV002277049
• dbSNP Id: rs2107631188

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566509_48566514del , CM000665.2:g.48566509_48566514del	GRCh38
NC_000003.11:g.48603942_48603947del , CM000665.1:g.48603942_48603947del	GRCh37
NC_000003.10:g.48578946_48578951del	NCBI36
NG_007065.1:g.33742_33747del , LRG_286:g.33742_33747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8357_8358+4del
ENST00000328333.12:c.8357_8358+4del
ENST00000487017.5:n.4996_4997+4del
NM_000094.3:c.8357_8358+4del , LRG_286t1:c.8357_8358+4del
XM_011533336.1:c.8384_8385+4del
XM_011533337.1:c.8357_8358+4del
XM_011533338.1:c.8324_8325+4del
XR_940369.1:n.8420_8421+4del
XR_940370.1:n.8420_8421+4del
XR_940371.1:n.8420_8421+4del
XM_017005688.1:c.8297_8298+4del
XR_001740003.1:n.8393_8394+4del
XR_001740004.1:n.8393_8394+4del
XR_001740005.1:n.8393_8394+4del
NM_000094.4:c.8357_8358+4del