Canonical Allele Identifier: CA584917100
Gene: HHLA1 HGNC NCBI

Linked Data

dbSNP Id: rs1172221590
gnomAD v2: 8-133103190-TAGAGAC-T
gnomAD v3: 8-132090943-TAGAGAC-T
gnomAD v4: 8-132090943-TAGAGAC-T
MyVariant Identifiers: chr8:g.133103191_133103196del (hg19) chr8:g.132090944_132090949del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132090946_132090951del , CM000670.2:g.132090946_132090951del GRCh38
NC_000008.10:g.133103193_133103198del , CM000670.1:g.133103193_133103198del GRCh37
NC_000008.9:g.133172375_133172380del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000414222.2:c.449-1350_449-1345del MANE Select ENSP00000388322.1:n.449-1350_449-1345del
ENST00000673615.1:c.557-1350_557-1345del ENSP00000500443.1:n.557-1350_557-1345del
ENST00000414222.1:c.449-1350_449-1345del ENSP00000388322.1:n.449-1350_449-1345del
ENST00000434736.6:c.557-1350_557-1345del ENSP00000407107.2:n.557-1350_557-1345del
NM_001145095.1:c.449-1350_449-1345del NP_001138567.1:n.449-1350_449-1345del
NM_001145095.3:c.449-1350_449-1345del MANE Select NP_001138567.1:n.449-1350_449-1345del
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