Canonical Allele Identifier: CA2645199044

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929572-AGGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929580_42929583del , CM000663.2:g.42929580_42929583del	GRCh38
NC_000001.10:g.43395251_43395254del , CM000663.1:g.43395251_43395254del	GRCh37
NC_000001.9:g.43167838_43167841del	NCBI36
NG_008232.1:g.34601_34604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+17_867+20del MANE Select	ENSP00000416293.2:n.867+17_867+20del
ENST00000674765.1:c.867+17_867+20del	ENSP00000501811.1:n.867+17_867+20del
ENST00000675112.1:n.907_910del
ENST00000676254.1:n.1316+17_1316+20del
ENST00000426263.7:c.867+17_867+20del	ENSP00000416293.2:n.867+17_867+20del
ENST00000439722.2:c.746+17_746+20del	ENSP00000395521.2:n.746+17_746+20del
ENST00000475162.3:c.415+1050_415+1053del
ENST00000630287.2:c.*182+17_*182+20del	ENSP00000486694.1:n.*182+17_*182+20del
NM_006516.2:c.867+17_867+20del	NP_006507.2:n.867+17_867+20del
NM_006516.3:c.867+17_867+20del	NP_006507.2:n.867+17_867+20del
NM_006516.4:c.867+17_867+20del MANE Select	NP_006507.2:n.867+17_867+20del