Canonical Allele Identifier: CA645372756

Gene: SLC39A8

Linked Data

• ClinVar Variation Id: 432927
• ClinVar RCV Id: RCV000497410 ; RCV003139700
• dbSNP Id: rs1553911693
• gnomAD v4: 4-102267625-C-CA
• MyVariant Identifiers: chr4:g.103188783dup (hg19) ; chr4:g.102267626dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102267627dup , CM000666.2:g.102267627dup	GRCh38
NC_000004.11:g.103188784dup , CM000666.1:g.103188784dup	GRCh37
NC_000004.10:g.103407807dup	NCBI36
NG_047177.1:g.82873dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.*69dup	ENSP00000394548.3:n.*69dup
ENST00000682227.1:c.1097dup	ENSP00000508363.1:p.Leu366PhefsTer?
ENST00000682243.1:c.*1243dup	ENSP00000507952.1:n.*1243dup
ENST00000682549.1:c.*69dup	ENSP00000507483.1:n.*69dup
ENST00000682932.1:c.1097dup	ENSP00000507414.1:p.Leu366PhefsTer?
ENST00000683173.1:c.*1218dup	ENSP00000508032.1:n.*1218dup
ENST00000683221.1:c.1097dup	ENSP00000508093.1:p.Leu366PhefsTer?
ENST00000683401.1:n.1030dup
ENST00000683412.1:c.1097dup	ENSP00000507538.1:p.Leu366PhefsTer?
ENST00000683462.1:c.*69dup	ENSP00000507170.1:n.*69dup
ENST00000683634.1:c.*1218dup	ENSP00000507087.1:n.*1218dup
ENST00000683706.1:c.*69dup	ENSP00000506745.1:n.*69dup
ENST00000683916.1:c.*69dup	ENSP00000508106.1:n.*69dup
ENST00000684289.1:c.*772dup	ENSP00000506748.1:n.*772dup
ENST00000684386.1:c.*311dup	ENSP00000507611.1:n.*311dup
ENST00000356736.5:c.1097dup MANE Select	ENSP00000349174.4:p.Leu366PhefsTer?
ENST00000356736.4:c.1097dup	ENSP00000349174.4:p.Leu366PhefsTer?
ENST00000394833.6:c.1097dup	ENSP00000378310.2:p.Leu366PhefsTer?
ENST00000424970.6:c.1097dup	ENSP00000394548.2:p.Leu366PhefsTer?
NM_001135146.1:c.1097dup	NP_001128618.1:p.Leu366PhefsTer?
NM_001135147.1:c.1097dup	NP_001128619.1:p.Leu366PhefsTer?
NM_001135148.1:c.896dup	NP_001128620.1:p.Leu299PhefsTer?
NM_022154.5:c.1097dup	NP_071437.3:p.Leu366PhefsTer?
XM_005263177.1:c.1097dup	XP_005263234.1:p.Leu366PhefsTer?
XM_011532182.1:c.455dup	XP_011530484.1:p.Leu152PhefsTer?
XM_005263177.2:c.1097dup	XP_005263234.1:p.Leu366PhefsTer?
XM_017008541.1:c.896dup	XP_016864030.1:p.Leu299PhefsTer?
XM_024454184.1:c.1097dup	XP_024309952.1:p.Leu366PhefsTer?
NM_001135146.2:c.1097dup MANE Select	NP_001128618.1:p.Leu366PhefsTer?
NM_001135148.2:c.896dup	NP_001128620.1:p.Leu299PhefsTer?