Canonical Allele Identifier: CA1826307155
Gene: SLC39A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 996350
ClinVar RCV Id: RCV001290757
dbSNP Id: rs1822076943

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414418_144414422del , CM000670.2:g.144414418_144414422del GRCh38
NC_000008.10:g.145639802_145639806del , CM000670.1:g.145639802_145639806del GRCh37
NC_000008.9:g.145610610_145610614del NCBI36
NG_012234.2:g.7469_7473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.989_993del MANE Select ENSP00000301305.4:p.Gly330AlafsTer?
ENST00000276833.9:c.914_918del ENSP00000276833.5:p.Gly305AlafsTer?
ENST00000301305.7:c.989_993del ENSP00000301305.3:p.Gly330AlafsTer?
NM_017767.2:c.914_918del NP_060237.2:p.Gly305AlafsTer?
NM_130849.3:c.989_993del NP_570901.2:p.Gly330AlafsTer?
XM_006716599.1:c.989_993del XP_006716662.1:p.Gly330AlafsTer?
XM_011517153.1:c.707_711del XP_011515455.1:p.Gly236AlafsTer?
XM_024447188.1:c.707_711del XP_024302956.1:p.Gly236AlafsTer?
XM_024447189.1:c.707_711del XP_024302957.1:p.Gly236AlafsTer?
NM_001374839.1:c.707_711del NP_001361768.1:p.Gly236AlafsTer?
NM_017767.3:c.914_918del NP_060237.3:p.Gly305AlafsTer?
NM_130849.4:c.989_993del MANE Select NP_570901.3:p.Gly330AlafsTer?