Canonical Allele Identifier: CA1001056227

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643614138
• gnomAD v3: 1-42943064-GTC-G
• gnomAD v4: 1-42943064-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943068_42943069del , CM000663.2:g.42943068_42943069del	GRCh38
NC_000001.10:g.43408739_43408740del , CM000663.1:g.43408739_43408740del	GRCh37
NC_000001.9:g.43181326_43181327del	NCBI36
NG_008232.1:g.21111_21112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+160_114+161del MANE Select	ENSP00000416293.2:n.114+160_114+161del
ENST00000674765.1:c.114+160_114+161del	ENSP00000501811.1:n.114+160_114+161del
ENST00000675112.1:n.137+160_137+161del
ENST00000372500.4:c.19-11860_19-11859del	ENSP00000361578.4:n.19-11860_19-11859del
ENST00000415851.6:n.331+160_331+161del
ENST00000426263.7:c.114+160_114+161del	ENSP00000416293.2:n.114+160_114+161del
ENST00000475162.3:c.13+160_13+161del
ENST00000625233.2:n.322+160_322+161del
ENST00000628173.1:n.333+160_333+161del
ENST00000630287.2:c.114+160_114+161del	ENSP00000486694.1:n.114+160_114+161del
ENST00000630821.1:n.491_492del
NM_006516.2:c.114+160_114+161del	NP_006507.2:n.114+160_114+161del
NM_006516.3:c.114+160_114+161del	NP_006507.2:n.114+160_114+161del
NM_006516.4:c.114+160_114+161del MANE Select	NP_006507.2:n.114+160_114+161del