Canonical Allele Identifier: CA2690397189
Gene: PSAT1 HGNC NCBI

Linked Data

gnomAD v4: 9-78304838-GCTGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304841_78304844del , CM000671.2:g.78304841_78304844del GRCh38
NC_000009.11:g.80919757_80919760del , CM000671.1:g.80919757_80919760del GRCh37
NC_000009.10:g.80109577_80109580del NCBI36
NG_012165.1:g.12699_12702del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.298_301del MANE Select ENSP00000365773.3:p.Asp100MetfsTer3
ENST00000347159.6:c.298_301del ENSP00000317606.2:p.Asp100MetfsTer3
ENST00000376588.3:c.298_301del ENSP00000365773.3:p.Asp100MetfsTer3
NM_021154.4:c.298_301del NP_066977.1:p.Asp100MetfsTer3
NM_058179.3:c.298_301del NP_478059.1:p.Asp100MetfsTer3
NM_058179.4:c.298_301del MANE Select NP_478059.1:p.Asp100MetfsTer3
NM_021154.5:c.298_301del NP_066977.1:p.Asp100MetfsTer3
Search 100 bp 5'
Search 100 bp 3'