Canonical Allele Identifier: CA2645199041

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929559-CTGGGGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929560_42929566del , CM000663.2:g.42929560_42929566del	GRCh38
NC_000001.10:g.43395231_43395237del , CM000663.1:g.43395231_43395237del	GRCh37
NC_000001.9:g.43167818_43167824del	NCBI36
NG_008232.1:g.34611_34617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+27_867+33del MANE Select	ENSP00000416293.2:n.867+27_867+33del
ENST00000674765.1:c.867+27_867+33del	ENSP00000501811.1:n.867+27_867+33del
ENST00000675112.1:n.917_923del
ENST00000676254.1:n.1316+27_1316+33del
ENST00000426263.7:c.867+27_867+33del	ENSP00000416293.2:n.867+27_867+33del
ENST00000439722.2:c.746+27_746+33del	ENSP00000395521.2:n.746+27_746+33del
ENST00000475162.3:c.415+1060_415+1066del
ENST00000630287.2:c.*182+27_*182+33del	ENSP00000486694.1:n.*182+27_*182+33del
NM_006516.2:c.867+27_867+33del	NP_006507.2:n.867+27_867+33del
NM_006516.3:c.867+27_867+33del	NP_006507.2:n.867+27_867+33del
NM_006516.4:c.867+27_867+33del MANE Select	NP_006507.2:n.867+27_867+33del