Canonical Allele Identifier: CA1165417755

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643615462
• gnomAD v4: 1-42943208-C-CGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943210_42943213dup , CM000663.2:g.42943210_42943213dup	GRCh38
NC_000001.10:g.43408881_43408884dup , CM000663.1:g.43408881_43408884dup	GRCh37
NC_000001.9:g.43181468_43181471dup	NCBI36
NG_008232.1:g.20965_20968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+14_114+17dup MANE Select	ENSP00000416293.2:n.114+14_114+17dup
ENST00000674765.1:c.114+14_114+17dup	ENSP00000501811.1:n.114+14_114+17dup
ENST00000675112.1:n.137+14_137+17dup
ENST00000372500.4:c.19-12006_19-12003dup	ENSP00000361578.4:n.19-12006_19-12003dup
ENST00000415851.6:n.331+14_331+17dup
ENST00000426263.7:c.114+14_114+17dup	ENSP00000416293.2:n.114+14_114+17dup
ENST00000475162.3:c.13+14_13+17dup
ENST00000625233.2:n.322+14_322+17dup
ENST00000628173.1:n.333+14_333+17dup
ENST00000630287.2:c.114+14_114+17dup	ENSP00000486694.1:n.114+14_114+17dup
ENST00000630821.1:n.345_348dup
NM_006516.2:c.114+14_114+17dup	NP_006507.2:n.114+14_114+17dup
NM_006516.3:c.114+14_114+17dup	NP_006507.2:n.114+14_114+17dup
NM_006516.4:c.114+14_114+17dup MANE Select	NP_006507.2:n.114+14_114+17dup