Canonical Allele Identifier: CA553576166

Gene: SLC39A8

Linked Data

• dbSNP Id: rs1457921018
• gnomAD v2: 4-103226267-GCCT-G
• gnomAD v4: 4-102305110-GCCT-G
• MyVariant Identifiers: chr4:g.103226268_103226270del (hg19) ; chr4:g.102305111_102305113del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102305111_102305113del , CM000666.2:g.102305111_102305113del	GRCh38
NC_000004.11:g.103226268_103226270del , CM000666.1:g.103226268_103226270del	GRCh37
NC_000004.10:g.103445291_103445293del	NCBI36
NG_047177.1:g.45386_45388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.553-2_553del
ENST00000682227.1:c.553-2_553del
ENST00000682243.1:c.*674-2_*674del
ENST00000682549.1:c.553-2_553del
ENST00000682932.1:c.553-2_553del
ENST00000683173.1:c.*674-2_*674del
ENST00000683221.1:c.553-2_553del
ENST00000683401.1:n.486-2_486del
ENST00000683412.1:c.553-2_553del
ENST00000683462.1:c.553-2_553del
ENST00000683634.1:c.*674-2_*674del
ENST00000683706.1:c.220-19140_220-19138del	ENSP00000506745.1:n.220-19140_220-19138del
ENST00000683916.1:c.553-2_553del
ENST00000684289.1:c.*228-2_*228del
ENST00000684386.1:c.553-2_553del
ENST00000356736.5:c.553-2_553del
ENST00000356736.4:c.553-2_553del
ENST00000394833.6:c.553-2_553del
ENST00000424970.6:c.553-2_553del
ENST00000510255.5:n.481-2_481del
ENST00000512657.5:n.472-2_472del
ENST00000514000.5:n.257-2_257del
NM_001135146.1:c.553-2_553del
NM_001135147.1:c.553-2_553del
NM_001135148.1:c.352-2_352del
NM_022154.5:c.553-2_553del
XM_005263177.1:c.553-2_553del
XM_011532181.1:c.553-2_553del
XM_011532182.1:c.-90-2_-90del
XM_005263177.2:c.553-2_553del
XM_017008541.1:c.352-2_352del
XM_024454183.1:c.553-2_553del
XM_024454184.1:c.553-2_553del
NM_001135146.2:c.553-2_553del
NM_001135148.2:c.352-2_352del