Canonical Allele Identifier: CA2295937505
Gene: SLC39A6 HGNC NCBI

Linked Data

dbSNP Id: rs2089326729

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.36114392_36114393insCA , CM000680.2:g.36114392_36114393insCA GRCh38
NC_000018.9:g.33694355_33694356insCA , CM000680.1:g.33694355_33694356insCA GRCh37
NC_000018.8:g.31948353_31948354insCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269187.10:c.1547_1548insTG MANE Select ENSP00000269187.4:p.Glu516AspfsTer4
ENST00000269187.9:c.1547_1548insTG ENSP00000269187.4:p.Glu516AspfsTer4
ENST00000440549.6:c.722_723insTG ENSP00000401139.1:p.Glu241AspfsTer4
ENST00000586829.1:c.248_249insTG ENSP00000467724.1:p.Glu83AspfsTer4
ENST00000590986.5:c.1547_1548insTG ENSP00000465915.1:p.Glu516AspfsTer4
NM_001099406.1:c.722_723insTG NP_001092876.1:p.Glu241AspfsTer4
NM_012319.3:c.1547_1548insTG NP_036451.3:p.Glu516AspfsTer4
XM_011525900.1:c.1547_1548insTG XP_011524202.1:p.Glu516AspfsTer4
XM_011525901.1:c.1547_1548insTG XP_011524203.1:p.Glu516AspfsTer4
XM_011525900.2:c.1547_1548insTG XP_011524202.1:p.Glu516AspfsTer4
XM_011525901.2:c.1547_1548insTG XP_011524203.1:p.Glu516AspfsTer4
NM_012319.4:c.1547_1548insTG MANE Select NP_036451.4:p.Glu516AspfsTer4
NM_001099406.2:c.722_723insTG NP_001092876.1:p.Glu241AspfsTer4