Canonical Allele Identifier: CA935563008
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1854326453
gnomAD v3: 11-18018906-CTTTTTCTACATGTTCTAAGATTTGCTTTTTTTAATTTCTT-C
gnomAD v4: 11-18018906-CTTTTTCTACATGTTCTAAGATTTGCTTTTTTTAATTTCTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18018933_18018972del , CM000673.2:g.18018933_18018972del GRCh38
NC_000011.9:g.18040480_18040519del , CM000673.1:g.18040480_18040519del GRCh37
NC_000011.8:g.17997056_17997095del NCBI36
NG_011947.1:g.26843_26882del
NG_011947.2:g.26843_26882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.*2045_*2084del MANE Select ENSP00000508368.1:n.*2045_*2084del
ENST00000250018.6:c.*2045_*2084del ENSP00000250018.2:n.*2045_*2084del
NM_004179.3:c.*2045_*2084del MANE Select NP_004170.1:n.*2045_*2084del
Search 100 bp 5'
Search 100 bp 3'