Canonical Allele Identifier: CA735977851

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1219933963
• gnomAD v3: 1-42943158-CTG-C
• gnomAD v4: 1-42943158-CTG-C
• MyVariant Identifiers: chr1:g.43408830_43408831del (hg19) ; chr1:g.42943159_42943160del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943161_42943162del , CM000663.2:g.42943161_42943162del	GRCh38
NC_000001.10:g.43408832_43408833del , CM000663.1:g.43408832_43408833del	GRCh37
NC_000001.9:g.43181419_43181420del	NCBI36
NG_008232.1:g.21017_21018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+66_114+67del MANE Select	ENSP00000416293.2:n.114+66_114+67del
ENST00000674765.1:c.114+66_114+67del	ENSP00000501811.1:n.114+66_114+67del
ENST00000675112.1:n.137+66_137+67del
ENST00000372500.4:c.19-11954_19-11953del	ENSP00000361578.4:n.19-11954_19-11953del
ENST00000415851.6:n.331+66_331+67del
ENST00000426263.7:c.114+66_114+67del	ENSP00000416293.2:n.114+66_114+67del
ENST00000475162.3:c.13+66_13+67del
ENST00000625233.2:n.322+66_322+67del
ENST00000628173.1:n.333+66_333+67del
ENST00000630287.2:c.114+66_114+67del	ENSP00000486694.1:n.114+66_114+67del
ENST00000630821.1:n.397_398del
NM_006516.2:c.114+66_114+67del	NP_006507.2:n.114+66_114+67del
NM_006516.3:c.114+66_114+67del	NP_006507.2:n.114+66_114+67del
NM_006516.4:c.114+66_114+67del MANE Select	NP_006507.2:n.114+66_114+67del