Canonical Allele Identifier: CA778834285

Gene: SLC39A6

Linked Data

• dbSNP Id: rs759117233
• gnomAD v3: 18-36114392-CTCT-C
• gnomAD v4: 18-36114392-CTCT-C
• MyVariant Identifiers: chr18:g.33694356_33694358del (hg19) ; chr18:g.36114393_36114395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114401_36114403del , CM000680.2:g.36114401_36114403del	GRCh38
NC_000018.9:g.33694364_33694366del , CM000680.1:g.33694364_33694366del	GRCh37
NC_000018.8:g.31948362_31948364del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269187.10:c.1545_1547del MANE Select	ENSP00000269187.4:p.Glu516del
ENST00000269187.9:c.1545_1547del	ENSP00000269187.4:p.Glu516del
ENST00000440549.6:c.720_722del	ENSP00000401139.1:p.Glu241del
ENST00000586829.1:c.246_248del	ENSP00000467724.1:p.Glu83del
ENST00000590986.5:c.1545_1547del	ENSP00000465915.1:p.Glu516del
NM_001099406.1:c.720_722del	NP_001092876.1:p.Glu241del
NM_012319.3:c.1545_1547del	NP_036451.3:p.Glu516del
XM_011525900.1:c.1545_1547del	XP_011524202.1:p.Glu516del
XM_011525901.1:c.1545_1547del	XP_011524203.1:p.Glu516del
XM_011525900.2:c.1545_1547del	XP_011524202.1:p.Glu516del
XM_011525901.2:c.1545_1547del	XP_011524203.1:p.Glu516del
NM_012319.4:c.1545_1547del MANE Select	NP_036451.4:p.Glu516del
NM_001099406.2:c.720_722del	NP_001092876.1:p.Glu241del