Canonical Allele Identifier: CA1165412234

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643462437
• gnomAD v4: 1-42929372-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929373del , CM000663.2:g.42929373del	GRCh38
NC_000001.10:g.43395044del , CM000663.1:g.43395044del	GRCh37
NC_000001.9:g.43167631del	NCBI36
NG_008232.1:g.34804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.868-59del MANE Select	ENSP00000416293.2:n.868-59del
ENST00000674545.1:n.127del
ENST00000674765.1:c.868-59del	ENSP00000501811.1:n.868-59del
ENST00000675112.1:n.1110del
ENST00000676254.1:n.1317-59del
ENST00000426263.7:c.868-59del	ENSP00000416293.2:n.868-59del
ENST00000439722.2:c.747-59del	ENSP00000395521.2:n.747-59del
ENST00000475162.3:c.415+1253del
ENST00000630287.2:c.*183-59del	ENSP00000486694.1:n.*183-59del
NM_006516.2:c.868-59del	NP_006507.2:n.868-59del
NM_006516.3:c.868-59del	NP_006507.2:n.868-59del
NM_006516.4:c.868-59del MANE Select	NP_006507.2:n.868-59del