Canonical Allele Identifier: CA1125785078
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1828555750
gnomAD v3: 9-78329923-TTAAAC-T
gnomAD v4: 9-78329923-TTAAAC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329929_78329933del , CM000671.2:g.78329929_78329933del GRCh38
NC_000009.11:g.80944845_80944849del , CM000671.1:g.80944845_80944849del GRCh37
NC_000009.10:g.80134665_80134669del NCBI36
NG_012165.1:g.37787_37791del

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*843_*847del MANE Select ENSP00000365773.3:n.*843_*847del
ENST00000376588.3:c.*843_*847del ENSP00000365773.3:n.*843_*847del
NM_021154.4:c.*843_*847del NP_066977.1:n.*843_*847del
NM_058179.3:c.*843_*847del NP_478059.1:n.*843_*847del
NM_058179.4:c.*843_*847del MANE Select NP_478059.1:n.*843_*847del
NM_021154.5:c.*843_*847del NP_066977.1:n.*843_*847del
Search 100 bp 5'
Search 100 bp 3'