Canonical Allele Identifier: CA2295937504

Gene: SLC39A6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114392_36114395delinsCTCT , CM000680.2:g.36114392_36114395delinsCTCT	GRCh38
NC_000018.9:g.33694355_33694358delinsCTCT , CM000680.1:g.33694355_33694358delinsCTCT	GRCh37
NC_000018.8:g.31948353_31948356delinsCTCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269187.10:c.1545_1548delinsAGAG MANE Select	ENSP00000269187.4:p.Glu515=
ENST00000269187.9:c.1545_1548delinsAGAG	ENSP00000269187.4:p.Glu515=
ENST00000440549.6:c.720_723delinsAGAG	ENSP00000401139.1:p.Glu240=
ENST00000586829.1:c.246_249delinsAGAG	ENSP00000467724.1:p.Glu82=
ENST00000590986.5:c.1545_1548delinsAGAG	ENSP00000465915.1:p.Glu515=
NM_001099406.1:c.720_723delinsAGAG	NP_001092876.1:p.Glu240=
NM_012319.3:c.1545_1548delinsAGAG	NP_036451.3:p.Glu515=
XM_011525900.1:c.1545_1548delinsAGAG	XP_011524202.1:p.Glu515=
XM_011525901.1:c.1545_1548delinsAGAG	XP_011524203.1:p.Glu515=
XM_011525900.2:c.1545_1548delinsAGAG	XP_011524202.1:p.Glu515=
XM_011525901.2:c.1545_1548delinsAGAG	XP_011524203.1:p.Glu515=
NM_012319.4:c.1545_1548delinsAGAG MANE Select	NP_036451.4:p.Glu515=
NM_001099406.2:c.720_723delinsAGAG	NP_001092876.1:p.Glu240=