Canonical Allele Identifier: CA1141188935

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929025_42929028delinsCACA , CM000663.2:g.42929025_42929028delinsCACA	GRCh38
NC_000001.10:g.43394696_43394699delinsCACA , CM000663.1:g.43394696_43394699delinsCACA	GRCh37
NC_000001.9:g.43167283_43167286delinsCACA	NCBI36
NG_008232.1:g.35149_35152delinsTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.978_981delinsTGTG MANE Select	ENSP00000416293.2:p.Phe326=
ENST00000674545.1:n.472_475delinsTGTG
ENST00000674765.1:c.978_981delinsTGTG	ENSP00000501811.1:p.Phe326=
ENST00000675112.1:n.1279_1282delinsTGTG
ENST00000676254.1:n.1427_1430delinsTGTG
ENST00000426263.7:c.978_981delinsTGTG	ENSP00000416293.2:p.Phe326=
ENST00000439722.2:c.857_860delinsTGTG	ENSP00000395521.2:n.857_860delinsTGTG
ENST00000475162.3:c.415+1598_415+1601delinsTGTG
ENST00000630287.2:c.*293_*296delinsTGTG	ENSP00000486694.1:n.*293_*296delinsTGTG
NM_006516.2:c.978_981delinsTGTG	NP_006507.2:p.Phe326=
NM_006516.3:c.978_981delinsTGTG	NP_006507.2:p.Phe326=
NM_006516.4:c.978_981delinsTGTG MANE Select	NP_006507.2:p.Phe326=