Canonical Allele Identifier: CA2690397184

Gene: PSAT1

Linked Data

• gnomAD v4: 9-78304728-TGCCCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78304731_78304737del , CM000671.2:g.78304731_78304737del	GRCh38
NC_000009.11:g.80919647_80919653del , CM000671.1:g.80919647_80919653del	GRCh37
NC_000009.10:g.80109467_80109473del	NCBI36
NG_012165.1:g.12589_12595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.192-4_194del
ENST00000347159.6:c.192-4_194del
ENST00000376588.3:c.192-4_194del
NM_021154.4:c.192-4_194del
NM_058179.3:c.192-4_194del
NM_058179.4:c.192-4_194del
NM_021154.5:c.192-4_194del