Canonical Allele Identifier: CA1139660828
Gene: SLC39A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 955829
ClinVar RCV Id: RCV001228536
dbSNP Id: rs1822066969

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414323dup , CM000670.2:g.144414323dup GRCh38
NC_000008.10:g.145639707dup , CM000670.1:g.145639707dup GRCh37
NC_000008.9:g.145610515dup NCBI36
NG_012234.2:g.7569dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1089dup MANE Select ENSP00000301305.4:p.Phe364LeufsTer?
ENST00000276833.9:c.1014dup ENSP00000276833.5:p.Phe339LeufsTer?
ENST00000301305.7:c.1089dup ENSP00000301305.3:p.Phe364LeufsTer?
NM_017767.2:c.1014dup NP_060237.2:p.Phe339LeufsTer?
NM_130849.3:c.1089dup NP_570901.2:p.Phe364LeufsTer?
XM_006716599.1:c.1089dup XP_006716662.1:p.Phe364LeufsTer?
XM_011517153.1:c.807dup XP_011515455.1:p.Phe270LeufsTer?
XM_024447188.1:c.807dup XP_024302956.1:p.Phe270LeufsTer?
XM_024447189.1:c.807dup XP_024302957.1:p.Phe270LeufsTer?
NM_001374839.1:c.807dup NP_001361768.1:p.Phe270LeufsTer?
NM_017767.3:c.1014dup NP_060237.3:p.Phe339LeufsTer?
NM_130849.4:c.1089dup MANE Select NP_570901.3:p.Phe364LeufsTer?