Canonical Allele Identifier: CA916162293

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1570593114
• gnomAD v4: 1-42930217-G-GGACC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930218_42930221dup , CM000663.2:g.42930218_42930221dup	GRCh38
NC_000001.10:g.43395889_43395892dup , CM000663.1:g.43395889_43395892dup	GRCh37
NC_000001.9:g.43168476_43168479dup	NCBI36
NG_008232.1:g.33956_33959dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-186_517-183dup MANE Select	ENSP00000416293.2:n.517-186_517-183dup
ENST00000674765.1:c.517-186_517-183dup	ENSP00000501811.1:n.517-186_517-183dup
ENST00000675112.1:n.540-186_540-183dup
ENST00000676254.1:n.966-186_966-183dup
ENST00000426263.7:c.517-186_517-183dup	ENSP00000416293.2:n.517-186_517-183dup
ENST00000439722.2:c.396-186_396-183dup	ENSP00000395521.2:n.396-186_396-183dup
ENST00000475162.3:c.415+405_415+408dup
ENST00000630287.2:c.516+405_516+408dup	ENSP00000486694.1:n.516+405_516+408dup
NM_006516.2:c.517-186_517-183dup	NP_006507.2:n.517-186_517-183dup
NM_006516.3:c.517-186_517-183dup	NP_006507.2:n.517-186_517-183dup
NM_006516.4:c.517-186_517-183dup MANE Select	NP_006507.2:n.517-186_517-183dup