Canonical Allele Identifier: CA522805063

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1432135420
• gnomAD v2: 1-43393503-GA-G
• gnomAD v3: 1-42927832-GA-G
• gnomAD v4: 1-42927832-GA-G
• MyVariant Identifiers: chr1:g.43393504del (hg19) ; chr1:g.42927833del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927836del , CM000663.2:g.42927836del	GRCh38
NC_000001.10:g.43393507del , CM000663.1:g.43393507del	GRCh37
NC_000001.9:g.43166094del	NCBI36
NG_008232.1:g.36344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-25del MANE Select	ENSP00000416293.2:n.1075-25del
ENST00000674545.1:n.1667del
ENST00000674765.1:c.1030-976del	ENSP00000501811.1:n.1030-976del
ENST00000675112.1:n.1376-25del
ENST00000676254.1:n.1524-25del
ENST00000426263.7:c.1075-25del	ENSP00000416293.2:n.1075-25del
ENST00000475162.3:c.416-855del
ENST00000630287.2:c.*390-25del	ENSP00000486694.1:n.*390-25del
NM_006516.2:c.1075-25del	NP_006507.2:n.1075-25del
NM_006516.3:c.1075-25del	NP_006507.2:n.1075-25del
NM_006516.4:c.1075-25del MANE Select	NP_006507.2:n.1075-25del