Canonical Allele Identifier: CA4941431

Gene: SLC39A4

Linked Data

• dbSNP Id: rs782553380
• ExAC: 8:145639799 CA / C
• gnomAD v2: 8-145639799-CA-C
• MyVariant Identifiers: chr8:g.145639800del (hg19) ; chr8:g.144414416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414416del , CM000670.2:g.144414416del	GRCh38
NC_000008.10:g.145639800del , CM000670.1:g.145639800del	GRCh37
NC_000008.9:g.145610608del	NCBI36
NG_012234.2:g.7475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.995del MANE Select	ENSP00000301305.4:p.Leu332ArgfsTer17
ENST00000276833.9:c.920del	ENSP00000276833.5:p.Leu307ArgfsTer17
ENST00000301305.7:c.995del	ENSP00000301305.3:p.Leu332ArgfsTer17
NM_017767.2:c.920del	NP_060237.2:p.Leu307ArgfsTer17
NM_130849.3:c.995del	NP_570901.2:p.Leu332ArgfsTer17
XM_006716599.1:c.995del	XP_006716662.1:p.Leu332ArgfsTer17
XM_011517153.1:c.713del	XP_011515455.1:p.Leu238ArgfsTer17
XM_024447188.1:c.713del	XP_024302956.1:p.Leu238ArgfsTer17
XM_024447189.1:c.713del	XP_024302957.1:p.Leu238ArgfsTer17
NM_001374839.1:c.713del	NP_001361768.1:p.Leu238ArgfsTer17
NM_017767.3:c.920del	NP_060237.3:p.Leu307ArgfsTer17
NM_130849.4:c.995del MANE Select	NP_570901.3:p.Leu332ArgfsTer17