Canonical Allele Identifier: CA236390
Gene: HEPACAM HGNC NCBI

Linked Data

ClinVar Variation Id: 191275
ClinVar RCV Id: RCV000171466
dbSNP Id: rs786205618
MyVariant Identifiers: chr11:g.124793280_124793282del (hg19) chr11:g.124923384_124923386del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124923384_124923386del , CM000673.2:g.124923384_124923386del GRCh38
NC_000011.9:g.124793280_124793282del , CM000673.1:g.124793280_124793282del GRCh37
NC_000011.8:g.124298490_124298492del NCBI36
NG_029603.1:g.18027_18029del

Transcript Alleles

HGVS Amino-acid change
ENST00000703807.1:c.757_759del ENSP00000515485.1:p.Leu253del
ENST00000298251.5:c.757_759del MANE Select ENSP00000298251.4:p.Leu253del
ENST00000298251.4:c.757_759del ENSP00000298251.4:p.Leu253del
NM_152722.4:c.757_759del NP_689935.2:p.Leu253del
XM_005271449.1:c.757_759del XP_005271506.1:p.Leu253del
XM_006718786.1:c.757_759del XP_006718849.1:p.Leu253del
XM_011542669.1:c.757_759del XP_011540971.1:p.Leu253del
XM_005271449.2:c.757_759del XP_005271506.1:p.Leu253del
XM_017017361.1:c.757_759del XP_016872850.1:p.Leu253del
XR_001748429.2:n.325-20016_325-20014del
NM_152722.5:c.757_759del MANE Select NP_689935.2:p.Leu253del
Search 100 bp 5'
Search 100 bp 3'