Canonical Allele Identifier: CA915947392

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 810335
• ClinVar RCV Id: RCV000999108
• dbSNP Id: rs1586652047

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414393_144414409dup , CM000670.2:g.144414393_144414409dup	GRCh38
NC_000008.10:g.145639777_145639793dup , CM000670.1:g.145639777_145639793dup	GRCh37
NC_000008.9:g.145610585_145610601dup	NCBI36
NG_012234.2:g.7484_7500dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1004_1020dup MANE Select	ENSP00000301305.4:p.Ala341CysfsTer14
ENST00000276833.9:c.929_945dup	ENSP00000276833.5:p.Ala316CysfsTer14
ENST00000301305.7:c.1004_1020dup	ENSP00000301305.3:p.Ala341CysfsTer14
NM_017767.2:c.929_945dup	NP_060237.2:p.Ala316CysfsTer14
NM_130849.3:c.1004_1020dup	NP_570901.2:p.Ala341CysfsTer14
XM_006716599.1:c.1004_1020dup	XP_006716662.1:p.Ala341CysfsTer14
XM_011517153.1:c.722_738dup	XP_011515455.1:p.Ala247CysfsTer14
XM_024447188.1:c.722_738dup	XP_024302956.1:p.Ala247CysfsTer14
XM_024447189.1:c.722_738dup	XP_024302957.1:p.Ala247CysfsTer14
NM_001374839.1:c.722_738dup	NP_001361768.1:p.Ala247CysfsTer14
NM_017767.3:c.929_945dup	NP_060237.3:p.Ala316CysfsTer14
NM_130849.4:c.1004_1020dup MANE Select	NP_570901.3:p.Ala341CysfsTer14