Canonical Allele Identifier: CA463556153

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 1075104
• ClinVar RCV Id: RCV001388616
• dbSNP Id: rs1285049551
• gnomAD v2: 8-145639429-G-GGTGGGCT
• gnomAD v3: 8-144414045-G-GGTGGGCT
• gnomAD v4: 8-144414045-G-GGTGGGCT
• MyVariant Identifiers: chr8:g.145639429_145639430insGTGGGCT (hg19) ; chr8:g.144414045_144414046insGTGGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414054_144414060dup , CM000670.2:g.144414054_144414060dup	GRCh38
NC_000008.10:g.145639438_145639444dup , CM000670.1:g.145639438_145639444dup	GRCh37
NC_000008.9:g.145610246_145610252dup	NCBI36
NG_012234.2:g.7839_7845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1193_1199dup MANE Select	ENSP00000301305.4:p.Trp401AlafsTer19
ENST00000276833.9:c.1118_1124dup	ENSP00000276833.5:p.Trp376AlafsTer19
ENST00000301305.7:c.1193_1199dup	ENSP00000301305.3:p.Trp401AlafsTer19
ENST00000531789.1:n.30_36dup
NM_017767.2:c.1118_1124dup	NP_060237.2:p.Trp376AlafsTer19
NM_130849.3:c.1193_1199dup	NP_570901.2:p.Trp401AlafsTer19
XM_006716599.1:c.1193_1199dup	XP_006716662.1:p.Trp401AlafsTer19
XM_011517153.1:c.911_917dup	XP_011515455.1:p.Trp307AlafsTer19
XM_024447188.1:c.911_917dup	XP_024302956.1:p.Trp307AlafsTer19
XM_024447189.1:c.911_917dup	XP_024302957.1:p.Trp307AlafsTer19
NM_001374839.1:c.911_917dup	NP_001361768.1:p.Trp307AlafsTer19
NM_017767.3:c.1118_1124dup	NP_060237.3:p.Trp376AlafsTer19
NM_130849.4:c.1193_1199dup MANE Select	NP_570901.3:p.Trp401AlafsTer19