Canonical Allele Identifier: CA2645199738

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930288-GCTGCTACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930293_42930300del , CM000663.2:g.42930293_42930300del	GRCh38
NC_000001.10:g.43395964_43395971del , CM000663.1:g.43395964_43395971del	GRCh37
NC_000001.9:g.43168551_43168558del	NCBI36
NG_008232.1:g.33881_33888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-261_517-254del MANE Select	ENSP00000416293.2:n.517-261_517-254del
ENST00000674765.1:c.517-261_517-254del	ENSP00000501811.1:n.517-261_517-254del
ENST00000675112.1:n.540-261_540-254del
ENST00000676254.1:n.966-261_966-254del
ENST00000426263.7:c.517-261_517-254del	ENSP00000416293.2:n.517-261_517-254del
ENST00000439722.2:c.396-261_396-254del	ENSP00000395521.2:n.396-261_396-254del
ENST00000475162.3:c.415+330_415+337del
ENST00000630287.2:c.516+330_516+337del	ENSP00000486694.1:n.516+330_516+337del
NM_006516.2:c.517-261_517-254del	NP_006507.2:n.517-261_517-254del
NM_006516.3:c.517-261_517-254del	NP_006507.2:n.517-261_517-254del
NM_006516.4:c.517-261_517-254del MANE Select	NP_006507.2:n.517-261_517-254del