Canonical Allele Identifier: CA586163377

Gene: SLC39A4

Linked Data

• dbSNP Id: rs1554872772
• gnomAD v2: 8-145639362-G-GGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCC
• gnomAD v3: 8-144413978-G-GGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCC
• gnomAD v4: 8-144413978-G-GGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCC
• MyVariant Identifiers: chr8:g.145639362_145639363insGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCC (hg19) ; chr8:g.144413978_144413979insGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144413980_144414021dup , CM000670.2:g.144413980_144414021dup	GRCh38
NC_000008.10:g.145639364_145639405dup , CM000670.1:g.145639364_145639405dup	GRCh37
NC_000008.9:g.145610172_145610213dup	NCBI36
NG_012234.2:g.7871_7912dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1225_1266dup MANE Select	ENSP00000301305.4:p.Leu422_Leu423insGlyLeuTyrAlaPhePheLeuPheG...
ENST00000276833.9:c.1150_1191dup	ENSP00000276833.5:p.Leu397_Leu398insGlyLeuTyrAlaPhePheLeuPheG...
ENST00000301305.7:c.1225_1266dup	ENSP00000301305.3:p.Leu422_Leu423insGlyLeuTyrAlaPhePheLeuPheG...
ENST00000531789.1:n.62_103dup
NM_017767.2:c.1150_1191dup	NP_060237.2:p.Leu397_Leu398insGlyLeuTyrAlaPhePheLeuPheGluAsnL...
NM_130849.3:c.1225_1266dup	NP_570901.2:p.Leu422_Leu423insGlyLeuTyrAlaPhePheLeuPheGluAsnL...
XM_006716599.1:c.1225_1266dup	XP_006716662.1:p.Leu422_Leu423insGlyLeuTyrAlaPhePheLeuPheGluA...
XM_011517153.1:c.943_984dup	XP_011515455.1:p.Leu328_Leu329insGlyLeuTyrAlaPhePheLeuPheGluA...
XM_024447188.1:c.943_984dup	XP_024302956.1:p.Leu328_Leu329insGlyLeuTyrAlaPhePheLeuPheGluA...
XM_024447189.1:c.943_984dup	XP_024302957.1:p.Leu328_Leu329insGlyLeuTyrAlaPhePheLeuPheGluA...
NM_001374839.1:c.943_984dup	NP_001361768.1:p.Leu328_Leu329insGlyLeuTyrAlaPhePheLeuPheGluA...
NM_017767.3:c.1150_1191dup	NP_060237.3:p.Leu397_Leu398insGlyLeuTyrAlaPhePheLeuPheGluAsnL...
NM_130849.4:c.1225_1266dup MANE Select	NP_570901.3:p.Leu422_Leu423insGlyLeuTyrAlaPhePheLeuPheGluAsnL...