Canonical Allele Identifier: CA2645199074

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929663-GGGGAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929666_42929671del , CM000663.2:g.42929666_42929671del	GRCh38
NC_000001.10:g.43395337_43395342del , CM000663.1:g.43395337_43395342del	GRCh37
NC_000001.9:g.43167924_43167929del	NCBI36
NG_008232.1:g.34508_34513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.791_796del MANE Select	ENSP00000416293.2:p.Arg264_Ser265del
ENST00000669445.1:c.121_126del
ENST00000674765.1:c.791_796del	ENSP00000501811.1:p.Arg264_Ser265del
ENST00000675112.1:n.814_819del
ENST00000676254.1:n.1240_1245del
ENST00000426263.7:c.791_796del	ENSP00000416293.2:p.Arg264_Ser265del
ENST00000439722.2:c.670_675del	ENSP00000395521.2:n.670_675del
ENST00000475162.3:c.415+957_415+962del
ENST00000630287.2:c.*106_*111del	ENSP00000486694.1:n.*106_*111del
NM_006516.2:c.791_796del	NP_006507.2:p.Arg264_Ser265del
NM_006516.3:c.791_796del	NP_006507.2:p.Arg264_Ser265del
NM_006516.4:c.791_796del MANE Select	NP_006507.2:p.Arg264_Ser265del