Canonical Allele Identifier: CA591374009

Gene: SLC34A3

Linked Data

• dbSNP Id: rs1564423394
• gnomAD v2: 9-140130742-TCTGGAGCC-T
• gnomAD v4: 9-137236290-TCTGGAGCC-T
• MyVariant Identifiers: chr9:g.140130743_140130750del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236295_137236302del , CM000671.2:g.137236295_137236302del	GRCh38
NC_000009.11:g.140130747_140130754del , CM000671.1:g.140130747_140130754del	GRCh37
NC_000009.10:g.139250568_139250575del	NCBI36
NG_017008.1:g.10539_10546del
NG_017008.2:g.10395_10402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673835.1:c.1679_1686del MANE Select	ENSP00000501114.1:p.Glu560GlyfsTer30
ENST00000361134.2:c.1679_1686del	ENSP00000355353.2:p.Glu560GlyfsTer30
ENST00000538474.5:c.1679_1686del	ENSP00000442397.1:p.Glu560GlyfsTer30
NM_001177316.1:c.1679_1686del	NP_001170787.1:p.Glu560GlyfsTer30
NM_001177317.1:c.1679_1686del	NP_001170788.1:p.Glu560GlyfsTer30
NM_080877.2:c.1679_1686del	NP_543153.1:p.Glu560GlyfsTer30
XM_017014292.1:c.1679_1686del	XP_016869781.1:p.Glu560GlyfsTer30
NM_001177316.2:c.1679_1686del MANE Select	NP_001170787.2:p.Glu560GlyfsTer30
NM_001177317.2:c.1679_1686del	NP_001170788.2:p.Glu560GlyfsTer30
NM_080877.3:c.1679_1686del	NP_543153.2:p.Glu560GlyfsTer30