Canonical Allele Identifier: CA2580070138

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1676633
• ClinVar RCV Id: RCV002277069
• dbSNP Id: rs2107638590

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568535del , CM000665.2:g.48568535del	GRCh38
NC_000003.11:g.48605968del , CM000665.1:g.48605968del	GRCh37
NC_000003.10:g.48580972del	NCBI36
NG_007065.1:g.31720del , LRG_286:g.31720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7760del
ENST00000328333.12:c.7760del
ENST00000459756.5:n.583del
ENST00000467985.1:n.606del
ENST00000487017.5:n.4399del
NM_000094.3:c.7760del , LRG_286t1:c.7760del
XM_011533336.1:c.7787del
XM_011533337.1:c.7760del
XM_011533338.1:c.7727del
XM_011533339.1:c.7787del
XR_940369.1:n.7823del
XR_940370.1:n.7823del
XR_940371.1:n.7823del
XR_940372.1:n.7797del
XM_017005688.1:c.7700del
XM_017005689.1:c.7760del
XR_001740003.1:n.7796del
XR_001740004.1:n.7796del
XR_001740005.1:n.7796del
XR_001740006.1:n.7770del
NM_000094.4:c.7760del