Canonical Allele Identifier: CA626912117
Gene: APOH HGNC NCBI

Linked Data

dbSNP Id: rs1242689613
gnomAD v2: 17-64224198-TC-T
gnomAD v4: 17-66228080-TC-T
MyVariant Identifiers: chr17:g.64224199del (hg19) chr17:g.66228081del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.66228083del , CM000679.2:g.66228083del GRCh38
NC_000017.10:g.64224201del , CM000679.1:g.64224201del GRCh37
NC_000017.9:g.61654663del NCBI36
NG_012045.1:g.6358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000205948.11:c.180del MANE Select ENSP00000205948.6:p.Met61Ter
ENST00000205948.10:c.180del ENSP00000205948.6:p.Met61Ter
ENST00000577982.1:c.180del ENSP00000464301.1:p.Met61Ter
ENST00000581797.5:c.-1del ENSP00000463553.1:n.-1del
NM_000042.2:c.180del NP_000033.2:p.Met61Ter
NM_000042.3:c.180del MANE Select NP_000033.2:p.Met61Ter
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