Canonical Allele Identifier: CA916888170
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs1575418836
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567641del , CM000665.2:g.48567641del GRCh38
NC_000003.11:g.48605074del , CM000665.1:g.48605074del GRCh37
NC_000003.10:g.48580078del NCBI36
NG_007065.1:g.32612del , LRG_286:g.32612del

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7984-5del MANE Select ENSP00000506558.1:n.7984-5del
ENST00000328333.12:c.7984-5del ENSP00000332371.8:n.7984-5del
ENST00000487017.5:n.4623-5del
NM_000094.3:c.7984-5del , LRG_286t1:c.7984-5del NP_000085.1:n.7984-5del
XM_011533336.1:c.8011-5del XP_011531638.1:n.8011-5del
XM_011533337.1:c.7984-5del XP_011531639.1:n.7984-5del
XM_011533338.1:c.7951-5del XP_011531640.1:n.7951-5del
XR_940369.1:n.8047-5del
XR_940370.1:n.8047-5del
XR_940371.1:n.8047-5del
XM_017005688.1:c.7924-5del XP_016861177.1:n.7924-5del
XR_001740003.1:n.8020-5del
XR_001740004.1:n.8020-5del
XR_001740005.1:n.8020-5del
NM_000094.4:c.7984-5del MANE Select NP_000085.1:n.7984-5del
Search 100 bp 5'
Search 100 bp 3'