Canonical Allele Identifier: CA522805128

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 806116
• ClinVar RCV Id: RCV000993977 ; RCV001326528 ; RCV003446566 ; RCV003446567 ; RCV003446568 ; RCV003446569 ; RCV003446570
• dbSNP Id: rs1557645931
• gnomAD v2: 1-43395362-CCTT-C
• gnomAD v3: 1-42929691-CCTT-C
• gnomAD v4: 1-42929691-CCTT-C
• MyVariant Identifiers: chr1:g.43395363_43395365del (hg19) ; chr1:g.42929692_42929694del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929697_42929699del , CM000663.2:g.42929697_42929699del	GRCh38
NC_000001.10:g.43395368_43395370del , CM000663.1:g.43395368_43395370del	GRCh37
NC_000001.9:g.43167955_43167957del	NCBI36
NG_008232.1:g.34483_34485del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.766_768del MANE Select	ENSP00000416293.2:p.Lys256del
ENST00000669445.1:c.96_98del
ENST00000674765.1:c.766_768del	ENSP00000501811.1:p.Lys256del
ENST00000675112.1:n.789_791del
ENST00000676254.1:n.1215_1217del
ENST00000426263.7:c.766_768del	ENSP00000416293.2:p.Lys256del
ENST00000439722.2:c.645_647del	ENSP00000395521.2:n.645_647del
ENST00000475162.3:c.415+932_415+934del
ENST00000630287.2:c.*81_*83del	ENSP00000486694.1:n.*81_*83del
NM_006516.2:c.766_768del	NP_006507.2:p.Lys256del
NM_006516.3:c.766_768del	NP_006507.2:p.Lys256del
NM_006516.4:c.766_768del MANE Select	NP_006507.2:p.Lys256del