Canonical Allele Identifier: CA2597013440
Gene: COL7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567637del , CM000665.2:g.48567637del GRCh38
NC_000003.11:g.48605070del , CM000665.1:g.48605070del GRCh37
NC_000003.10:g.48580074del NCBI36
NG_007065.1:g.32620del , LRG_286:g.32620del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7987del
ENST00000328333.12:c.7987del
ENST00000487017.5:n.4626del
NM_000094.3:c.7987del , LRG_286t1:c.7987del
XM_011533336.1:c.8014del
XM_011533337.1:c.7987del
XM_011533338.1:c.7954del
XR_940369.1:n.8050del
XR_940370.1:n.8050del
XR_940371.1:n.8050del
XM_017005688.1:c.7927del
XR_001740003.1:n.8023del
XR_001740004.1:n.8023del
XR_001740005.1:n.8023del
NM_000094.4:c.7987del