Canonical Allele Identifier: CA2645199531

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930163-C-CTAGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930163_42930164insTAGTGG , CM000663.2:g.42930163_42930164insTAGTGG	GRCh38
NC_000001.10:g.43395834_43395835insTAGTGG , CM000663.1:g.43395834_43395835insTAGTGG	GRCh37
NC_000001.9:g.43168421_43168422insTAGTGG	NCBI36
NG_008232.1:g.34013_34014insCCACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-129_517-128insCCACTA MANE Select	ENSP00000416293.2:n.517-129_517-128insCCACTA
ENST00000674765.1:c.517-129_517-128insCCACTA	ENSP00000501811.1:n.517-129_517-128insCCACTA
ENST00000675112.1:n.540-129_540-128insCCACTA
ENST00000676254.1:n.966-129_966-128insCCACTA
ENST00000426263.7:c.517-129_517-128insCCACTA	ENSP00000416293.2:n.517-129_517-128insCCACTA
ENST00000439722.2:c.396-129_396-128insCCACTA	ENSP00000395521.2:n.396-129_396-128insCCACTA
ENST00000475162.3:c.415+462_415+463insCCACTA
ENST00000630287.2:c.517-384_517-383insCCACTA	ENSP00000486694.1:n.517-384_517-383insCCACTA
NM_006516.2:c.517-129_517-128insCCACTA	NP_006507.2:n.517-129_517-128insCCACTA
NM_006516.3:c.517-129_517-128insCCACTA	NP_006507.2:n.517-129_517-128insCCACTA
NM_006516.4:c.517-129_517-128insCCACTA MANE Select	NP_006507.2:n.517-129_517-128insCCACTA