Canonical Allele Identifier: CA1165412750

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930670_42930675delinsTGCCCA , CM000663.2:g.42930670_42930675delinsTGCCCA	GRCh38
NC_000001.10:g.43396341_43396346delinsTGCCCA , CM000663.1:g.43396341_43396346delinsTGCCCA	GRCh37
NC_000001.9:g.43168928_43168933delinsTGCCCA	NCBI36
NG_008232.1:g.33502_33507delinsTGGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.467_472delinsTGGGCA MANE Select	ENSP00000416293.2:p.Leu156=
ENST00000674765.1:c.467_472delinsTGGGCA	ENSP00000501811.1:p.Leu156=
ENST00000675112.1:n.490_495delinsTGGGCA
ENST00000676254.1:n.916_921delinsTGGGCA
ENST00000426263.7:c.467_472delinsTGGGCA	ENSP00000416293.2:p.Leu156=
ENST00000439722.2:c.346_351delinsTGGGCA	ENSP00000395521.2:n.346_351delinsTGGGCA
ENST00000475162.3:c.366_371delinsTGGGCA
ENST00000625233.2:n.675_680delinsTGGGCA
ENST00000630287.2:c.467_472delinsTGGGCA	ENSP00000486694.1:p.Leu156=
NM_006516.2:c.467_472delinsTGGGCA	NP_006507.2:p.Leu156=
NM_006516.3:c.467_472delinsTGGGCA	NP_006507.2:p.Leu156=
NM_006516.4:c.467_472delinsTGGGCA MANE Select	NP_006507.2:p.Leu156=