Canonical Allele Identifier: CA8720512
Gene: APOH HGNC NCBI

Linked Data

dbSNP Id: rs772209887
ExAC: 17:64224245 TCTC / T
gnomAD v2: 17-64224245-TCTC-T
gnomAD v3: 17-66228127-TCTC-T
gnomAD v4: 17-66228127-TCTC-T
MyVariant Identifiers: chr17:g.64224246_64224248del (hg19) chr17:g.66228129_66228131del (hg38) chr17:g.66228128_66228130del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.66228130_66228132del , CM000679.2:g.66228130_66228132del GRCh38
NC_000017.10:g.64224248_64224250del , CM000679.1:g.64224248_64224250del GRCh37
NC_000017.9:g.61654710_61654712del NCBI36
NG_012045.1:g.6309_6311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000205948.11:c.131_133del MANE Select ENSP00000205948.6:p.Gly44del
ENST00000205948.10:c.131_133del ENSP00000205948.6:p.Gly44del
ENST00000577982.1:c.131_133del ENSP00000464301.1:p.Gly44del
ENST00000581797.5:c.-50_-48del ENSP00000463553.1:n.-50_-48del
NM_000042.2:c.131_133del NP_000033.2:p.Gly44del
NM_000042.3:c.131_133del MANE Select NP_000033.2:p.Gly44del
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