Canonical Allele Identifier: CA2645199015

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929504-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929506_42929507del , CM000663.2:g.42929506_42929507del	GRCh38
NC_000001.10:g.43395177_43395178del , CM000663.1:g.43395177_43395178del	GRCh37
NC_000001.9:g.43167764_43167765del	NCBI36
NG_008232.1:g.34671_34672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+87_867+88del MANE Select	ENSP00000416293.2:n.867+87_867+88del
ENST00000674765.1:c.867+87_867+88del	ENSP00000501811.1:n.867+87_867+88del
ENST00000675112.1:n.977_978del
ENST00000676254.1:n.1316+87_1316+88del
ENST00000426263.7:c.867+87_867+88del	ENSP00000416293.2:n.867+87_867+88del
ENST00000439722.2:c.746+87_746+88del	ENSP00000395521.2:n.746+87_746+88del
ENST00000475162.3:c.415+1120_415+1121del
ENST00000630287.2:c.*182+87_*182+88del	ENSP00000486694.1:n.*182+87_*182+88del
NM_006516.2:c.867+87_867+88del	NP_006507.2:n.867+87_867+88del
NM_006516.3:c.867+87_867+88del	NP_006507.2:n.867+87_867+88del
NM_006516.4:c.867+87_867+88del MANE Select	NP_006507.2:n.867+87_867+88del