Canonical Allele Identifier: CA4941315

Gene: SLC39A4

Linked Data

• dbSNP Id: rs782073365
• ExAC: 8:145639368 T / TGA
• gnomAD v2: 8-145639368-T-TGA
• gnomAD v3: 8-144413984-T-TGA
• gnomAD v4: 8-144413984-T-TGA
• MyVariant Identifiers: chr8:g.145639368_145639369insGA (hg19) ; chr8:g.144413984_144413985insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144413985_144413986dup , CM000670.2:g.144413985_144413986dup	GRCh38
NC_000008.10:g.145639369_145639370dup , CM000670.1:g.145639369_145639370dup	GRCh37
NC_000008.9:g.145610177_145610178dup	NCBI36
NG_012234.2:g.7905_7906dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1259_1260dup MANE Select	ENSP00000301305.4:p.Asn421SerfsTer?
ENST00000276833.9:c.1184_1185dup	ENSP00000276833.5:p.Asn396SerfsTer?
ENST00000301305.7:c.1259_1260dup	ENSP00000301305.3:p.Asn421SerfsTer?
ENST00000531789.1:n.96_97dup
NM_017767.2:c.1184_1185dup	NP_060237.2:p.Asn396SerfsTer?
NM_130849.3:c.1259_1260dup	NP_570901.2:p.Asn421SerfsTer?
XM_006716599.1:c.1259_1260dup	XP_006716662.1:p.Asn421SerfsTer?
XM_011517153.1:c.977_978dup	XP_011515455.1:p.Asn327SerfsTer?
XM_024447188.1:c.977_978dup	XP_024302956.1:p.Asn327SerfsTer?
XM_024447189.1:c.977_978dup	XP_024302957.1:p.Asn327SerfsTer?
NM_001374839.1:c.977_978dup	NP_001361768.1:p.Asn327SerfsTer?
NM_017767.3:c.1184_1185dup	NP_060237.3:p.Asn396SerfsTer?
NM_130849.4:c.1259_1260dup MANE Select	NP_570901.3:p.Asn421SerfsTer?