Canonical Allele Identifier: CA591374008

Gene: SLC34A3

Linked Data

• dbSNP Id: rs1564423309
• gnomAD v2: 9-140130701-CGCCTGCGCTCCTGGGCCTGGCTCCCCGTCT-C
• gnomAD v4: 9-137236249-CGCCTGCGCTCCTGGGCCTGGCTCCCCGTCT-C
• MyVariant Identifiers: chr9:g.140130702_140130731del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236251_137236280del , CM000671.2:g.137236251_137236280del	GRCh38
NC_000009.11:g.140130703_140130732del , CM000671.1:g.140130703_140130732del	GRCh37
NC_000009.10:g.139250524_139250553del	NCBI36
NG_017008.1:g.10495_10524del
NG_017008.2:g.10351_10380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673835.1:c.1635_1664del MANE Select	ENSP00000501114.1:p.Leu546_Trp555del
ENST00000361134.2:c.1635_1664del	ENSP00000355353.2:p.Leu546_Trp555del
ENST00000538474.5:c.1635_1664del	ENSP00000442397.1:p.Leu546_Trp555del
NM_001177316.1:c.1635_1664del	NP_001170787.1:p.Leu546_Trp555del
NM_001177317.1:c.1635_1664del	NP_001170788.1:p.Leu546_Trp555del
NM_080877.2:c.1635_1664del	NP_543153.1:p.Leu546_Trp555del
XM_017014292.1:c.1635_1664del	XP_016869781.1:p.Leu546_Trp555del
NM_001177316.2:c.1635_1664del MANE Select	NP_001170787.2:p.Leu546_Trp555del
NM_001177317.2:c.1635_1664del	NP_001170788.2:p.Leu546_Trp555del
NM_080877.3:c.1635_1664del	NP_543153.2:p.Leu546_Trp555del