Canonical Allele Identifier: CA586164229

Gene: SLC39A4

Linked Data

• dbSNP Id: rs1564708853
• gnomAD v2: 8-145639779-AGGC-A
• gnomAD v4: 8-144414395-AGGC-A
• MyVariant Identifiers: chr8:g.145639780_145639782del (hg19) ; chr8:g.144414396_144414398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414396_144414398del , CM000670.2:g.144414396_144414398del	GRCh38
NC_000008.10:g.145639780_145639782del , CM000670.1:g.145639780_145639782del	GRCh37
NC_000008.9:g.145610588_145610590del	NCBI36
NG_012234.2:g.7493_7495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1013_1015del MANE Select	ENSP00000301305.4:p.Cys338_Leu339delinsPhe
ENST00000276833.9:c.938_940del	ENSP00000276833.5:p.Cys313_Leu314delinsPhe
ENST00000301305.7:c.1013_1015del	ENSP00000301305.3:p.Cys338_Leu339delinsPhe
NM_017767.2:c.938_940del	NP_060237.2:p.Cys313_Leu314delinsPhe
NM_130849.3:c.1013_1015del	NP_570901.2:p.Cys338_Leu339delinsPhe
XM_006716599.1:c.1013_1015del	XP_006716662.1:p.Cys338_Leu339delinsPhe
XM_011517153.1:c.731_733del	XP_011515455.1:p.Cys244_Leu245delinsPhe
XM_024447188.1:c.731_733del	XP_024302956.1:p.Cys244_Leu245delinsPhe
XM_024447189.1:c.731_733del	XP_024302957.1:p.Cys244_Leu245delinsPhe
NM_001374839.1:c.731_733del	NP_001361768.1:p.Cys244_Leu245delinsPhe
NM_017767.3:c.938_940del	NP_060237.3:p.Cys313_Leu314delinsPhe
NM_130849.4:c.1013_1015del MANE Select	NP_570901.3:p.Cys338_Leu339delinsPhe