Canonical Allele Identifier: CA218519070
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1055577906
gnomAD v3: 11-18019087-TAA-T
gnomAD v4: 11-18019087-TAA-T
MyVariant Identifiers: chr11:g.18040635_18040636del (hg19) chr11:g.18019088_18019089del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18019088_18019089del , CM000673.2:g.18019088_18019089del GRCh38
NC_000011.9:g.18040635_18040636del , CM000673.1:g.18040635_18040636del GRCh37
NC_000011.8:g.17997211_17997212del NCBI36
NG_011947.1:g.26700_26701del
NG_011947.2:g.26700_26701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.*1902_*1903del MANE Select ENSP00000508368.1:n.*1902_*1903del
ENST00000250018.6:c.*1902_*1903del ENSP00000250018.2:n.*1902_*1903del
NM_004179.3:c.*1902_*1903del MANE Select NP_004170.1:n.*1902_*1903del
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