Canonical Allele Identifier: CA553576169

Gene: SLC39A8

Linked Data

• dbSNP Id: rs1235980558
• gnomAD v2: 4-103226272-AGGG-A
• gnomAD v4: 4-102305115-AGGG-A
• MyVariant Identifiers: chr4:g.103226273_103226275del (hg19) ; chr4:g.102305116_102305118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102305116_102305118del , CM000666.2:g.102305116_102305118del	GRCh38
NC_000004.11:g.103226273_103226275del , CM000666.1:g.103226273_103226275del	GRCh37
NC_000004.10:g.103445296_103445298del	NCBI36
NG_047177.1:g.45381_45383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.553-7_553-5del	ENSP00000394548.3:n.553-7_553-5del
ENST00000682227.1:c.553-7_553-5del	ENSP00000508363.1:n.553-7_553-5del
ENST00000682243.1:c.*674-7_*674-5del	ENSP00000507952.1:n.*674-7_*674-5del
ENST00000682549.1:c.553-7_553-5del	ENSP00000507483.1:n.553-7_553-5del
ENST00000682932.1:c.553-7_553-5del	ENSP00000507414.1:n.553-7_553-5del
ENST00000683173.1:c.*674-7_*674-5del	ENSP00000508032.1:n.*674-7_*674-5del
ENST00000683221.1:c.553-7_553-5del	ENSP00000508093.1:n.553-7_553-5del
ENST00000683401.1:n.486-7_486-5del
ENST00000683412.1:c.553-7_553-5del	ENSP00000507538.1:n.553-7_553-5del
ENST00000683462.1:c.553-7_553-5del	ENSP00000507170.1:n.553-7_553-5del
ENST00000683634.1:c.*674-7_*674-5del	ENSP00000507087.1:n.*674-7_*674-5del
ENST00000683706.1:c.220-19145_220-19143del	ENSP00000506745.1:n.220-19145_220-19143del
ENST00000683916.1:c.553-7_553-5del	ENSP00000508106.1:n.553-7_553-5del
ENST00000684289.1:c.*228-7_*228-5del	ENSP00000506748.1:n.*228-7_*228-5del
ENST00000684386.1:c.553-7_553-5del	ENSP00000507611.1:n.553-7_553-5del
ENST00000356736.5:c.553-7_553-5del MANE Select	ENSP00000349174.4:n.553-7_553-5del
ENST00000356736.4:c.553-7_553-5del	ENSP00000349174.4:n.553-7_553-5del
ENST00000394833.6:c.553-7_553-5del	ENSP00000378310.2:n.553-7_553-5del
ENST00000424970.6:c.553-7_553-5del	ENSP00000394548.2:n.553-7_553-5del
ENST00000510255.5:n.481-7_481-5del
ENST00000512657.5:n.472-7_472-5del
ENST00000514000.5:n.257-7_257-5del
NM_001135146.1:c.553-7_553-5del	NP_001128618.1:n.553-7_553-5del
NM_001135147.1:c.553-7_553-5del	NP_001128619.1:n.553-7_553-5del
NM_001135148.1:c.352-7_352-5del	NP_001128620.1:n.352-7_352-5del
NM_022154.5:c.553-7_553-5del	NP_071437.3:n.553-7_553-5del
XM_005263177.1:c.553-7_553-5del	XP_005263234.1:n.553-7_553-5del
XM_011532181.1:c.553-7_553-5del	XP_011530483.1:n.553-7_553-5del
XM_011532182.1:c.-90-7_-90-5del	XP_011530484.1:n.-90-7_-90-5del
XM_005263177.2:c.553-7_553-5del	XP_005263234.1:n.553-7_553-5del
XM_017008541.1:c.352-7_352-5del	XP_016864030.1:n.352-7_352-5del
XM_024454183.1:c.553-7_553-5del	XP_024309951.1:n.553-7_553-5del
XM_024454184.1:c.553-7_553-5del	XP_024309952.1:n.553-7_553-5del
NM_001135146.2:c.553-7_553-5del MANE Select	NP_001128618.1:n.553-7_553-5del
NM_001135148.2:c.352-7_352-5del	NP_001128620.1:n.352-7_352-5del