Canonical Allele Identifier: CA584917098
Gene: HHLA1 HGNC NCBI

Linked Data

gnomAD v2: 8-133103111-TTCTCCTACCTCAGCCTCCCAAGTATCTGGGACTACAGGCGCCCGCCAACACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTC-T
gnomAD v3: 8-132090864-TTCTCCTACCTCAGCCTCCCAAGTATCTGGGACTACAGGCGCCCGCCAACACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTC-T
gnomAD v4: 8-132090864-TTCTCCTACCTCAGCCTCCCAAGTATCTGGGACTACAGGCGCCCGCCAACACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTC-T
MyVariant Identifiers: chr8:g.133103112_133103225del (hg19) chr8:g.132090865_132090978del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132090867_132090980del , CM000670.2:g.132090867_132090980del GRCh38
NC_000008.10:g.133103114_133103227del , CM000670.1:g.133103114_133103227del GRCh37
NC_000008.9:g.133172296_133172409del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000414222.2:c.449-1379_449-1266del MANE Select ENSP00000388322.1:n.449-1379_449-1266del
ENST00000673615.1:c.557-1379_557-1266del ENSP00000500443.1:n.557-1379_557-1266del
ENST00000414222.1:c.449-1379_449-1266del ENSP00000388322.1:n.449-1379_449-1266del
ENST00000434736.6:c.557-1379_557-1266del ENSP00000407107.2:n.557-1379_557-1266del
NM_001145095.1:c.449-1379_449-1266del NP_001138567.1:n.449-1379_449-1266del
NM_001145095.3:c.449-1379_449-1266del MANE Select NP_001138567.1:n.449-1379_449-1266del
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