Canonical Allele Identifier: CA2689098921

Gene: SLC39A4

Linked Data

• gnomAD v4: 8-144414377-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414379dup , CM000670.2:g.144414379dup	GRCh38
NC_000008.10:g.145639763dup , CM000670.1:g.145639763dup	GRCh37
NC_000008.9:g.145610571dup	NCBI36
NG_012234.2:g.7513dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1033dup MANE Select	ENSP00000301305.4:p.Leu345ProfsTer?
ENST00000276833.9:c.958dup	ENSP00000276833.5:p.Leu320ProfsTer?
ENST00000301305.7:c.1033dup	ENSP00000301305.3:p.Leu345ProfsTer?
NM_017767.2:c.958dup	NP_060237.2:p.Leu320ProfsTer?
NM_130849.3:c.1033dup	NP_570901.2:p.Leu345ProfsTer?
XM_006716599.1:c.1033dup	XP_006716662.1:p.Leu345ProfsTer?
XM_011517153.1:c.751dup	XP_011515455.1:p.Leu251ProfsTer?
XM_024447188.1:c.751dup	XP_024302956.1:p.Leu251ProfsTer?
XM_024447189.1:c.751dup	XP_024302957.1:p.Leu251ProfsTer?
NM_001374839.1:c.751dup	NP_001361768.1:p.Leu251ProfsTer?
NM_017767.3:c.958dup	NP_060237.3:p.Leu320ProfsTer?
NM_130849.4:c.1033dup MANE Select	NP_570901.3:p.Leu345ProfsTer?