Canonical Allele Identifier: CA2580078704

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 3534
• ClinVar RCV Id: RCV000003712
• dbSNP Id: rs2130796648

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414020_144414024del , CM000670.2:g.144414020_144414024del	GRCh38
NC_000008.10:g.145639404_145639408del , CM000670.1:g.145639404_145639408del	GRCh37
NC_000008.9:g.145610212_145610216del	NCBI36
NG_012234.2:g.7870_7874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1224_1228del MANE Select	ENSP00000301305.4:p.Gly409LeufsTer7
ENST00000276833.9:c.1149_1153del	ENSP00000276833.5:p.Gly384LeufsTer7
ENST00000301305.7:c.1224_1228del	ENSP00000301305.3:p.Gly409LeufsTer7
ENST00000531789.1:n.61_65del
NM_017767.2:c.1149_1153del	NP_060237.2:p.Gly384LeufsTer7
NM_130849.3:c.1224_1228del	NP_570901.2:p.Gly409LeufsTer7
XM_006716599.1:c.1224_1228del	XP_006716662.1:p.Gly409LeufsTer7
XM_011517153.1:c.942_946del	XP_011515455.1:p.Gly315LeufsTer7
XM_024447188.1:c.942_946del	XP_024302956.1:p.Gly315LeufsTer7
XM_024447189.1:c.942_946del	XP_024302957.1:p.Gly315LeufsTer7
NM_001374839.1:c.942_946del	NP_001361768.1:p.Gly315LeufsTer7
NM_017767.3:c.1149_1153del	NP_060237.3:p.Gly384LeufsTer7
NM_130849.4:c.1224_1228del MANE Select	NP_570901.3:p.Gly409LeufsTer7