Canonical Allele Identifier: CA204377
Community Standard Title: NM_006424.3(SLC34A2):c.212_224del (p.Asn71IlefsTer27)
Gene: SLC34A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25662804_25662816del , CM000666.2:g.25662804_25662816del GRCh38
NC_000004.11:g.25664426_25664438del , CM000666.1:g.25664426_25664438del GRCh37
NC_000004.10:g.25273524_25273536del NCBI36
NG_021185.1:g.11992_12004del

Transcript Alleles

HGVS Amino-acid Change
NM_006424.3:c.212_224del MANE Select NP_006415.3:p.Asn71IlefsTer27
ENST00000382051.8:c.212_224del MANE Select ENSP00000371483.3:p.Asn71IlefsTer27
NM_001177998.1:c.209_221del NP_001171469.1:p.Asn70IlefsTer27
NM_001177998.2:c.209_221del NP_001171469.2:p.Asn70IlefsTer27
NM_001177999.1:c.209_221del NP_001171470.1:p.Asn70IlefsTer27
NM_001177999.2:c.209_221del NP_001171470.2:p.Asn70IlefsTer27
NM_006424.2:c.212_224del NP_006415.2:p.Asn71IlefsTer27
ENST00000382051.7:c.212_224del ENSP00000371483.3:p.Asn71IlefsTer27
ENST00000503434.5:c.209_221del ENSP00000423021.1:p.Asn70IlefsTer27
ENST00000504570.5:c.209_221del ENSP00000425501.1:p.Asn70IlefsTer27
ENST00000507530.1:c.212_224del ENSP00000424266.1:p.Asn71IlefsTer27
ENST00000513204.5:c.209_221del ENSP00000423038.1:p.Asn70IlefsTer27
ENST00000645788.1:c.209_221del ENSP00000494094.1:p.Asn70IlefsTer27