Canonical Allele Identifier: CA2573143010
Gene: SLC39A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458442
ClinVar RCV Id: RCV001956374
dbSNP Id: rs2130798065

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414421_144414430del , CM000670.2:g.144414421_144414430del GRCh38
NC_000008.10:g.145639805_145639814del , CM000670.1:g.145639805_145639814del GRCh37
NC_000008.9:g.145610613_145610622del NCBI36
NG_012234.2:g.7463_7472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.983_992del MANE Select ENSP00000301305.4:p.Leu328ProfsTer18
ENST00000276833.9:c.908_917del ENSP00000276833.5:p.Leu303ProfsTer18
ENST00000301305.7:c.983_992del ENSP00000301305.3:p.Leu328ProfsTer18
NM_017767.2:c.908_917del NP_060237.2:p.Leu303ProfsTer18
NM_130849.3:c.983_992del NP_570901.2:p.Leu328ProfsTer18
XM_006716599.1:c.983_992del XP_006716662.1:p.Leu328ProfsTer18
XM_011517153.1:c.701_710del XP_011515455.1:p.Leu234ProfsTer18
XM_024447188.1:c.701_710del XP_024302956.1:p.Leu234ProfsTer18
XM_024447189.1:c.701_710del XP_024302957.1:p.Leu234ProfsTer18
NM_001374839.1:c.701_710del NP_001361768.1:p.Leu234ProfsTer18
NM_017767.3:c.908_917del NP_060237.3:p.Leu303ProfsTer18
NM_130849.4:c.983_992del MANE Select NP_570901.3:p.Leu328ProfsTer18