Canonical Allele Identifier: CA2580078703

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 2120845
• ClinVar RCV Id: RCV003059590

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144413996_144413997insT , CM000670.2:g.144413996_144413997insT	GRCh38
NC_000008.10:g.145639380_145639381insT , CM000670.1:g.145639380_145639381insT	GRCh37
NC_000008.9:g.145610188_145610189insT	NCBI36
NG_012234.2:g.7894_7895insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1248_1249insA MANE Select	ENSP00000301305.4:p.Glu417ArgfsTer26
ENST00000276833.9:c.1173_1174insA	ENSP00000276833.5:p.Glu392ArgfsTer26
ENST00000301305.7:c.1248_1249insA	ENSP00000301305.3:p.Glu417ArgfsTer26
ENST00000531789.1:n.85_86insA
NM_017767.2:c.1173_1174insA	NP_060237.2:p.Glu392ArgfsTer26
NM_130849.3:c.1248_1249insA	NP_570901.2:p.Glu417ArgfsTer26
XM_006716599.1:c.1248_1249insA	XP_006716662.1:p.Glu417ArgfsTer26
XM_011517153.1:c.966_967insA	XP_011515455.1:p.Glu323ArgfsTer26
XM_024447188.1:c.966_967insA	XP_024302956.1:p.Glu323ArgfsTer26
XM_024447189.1:c.966_967insA	XP_024302957.1:p.Glu323ArgfsTer26
NM_001374839.1:c.966_967insA	NP_001361768.1:p.Glu323ArgfsTer26
NM_017767.3:c.1173_1174insA	NP_060237.3:p.Glu392ArgfsTer26
NM_130849.4:c.1248_1249insA MANE Select	NP_570901.3:p.Glu417ArgfsTer26