Canonical Allele Identifier: CA2645199513

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930152-T-TAGTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930154_42930155insTGGCAG , CM000663.2:g.42930154_42930155insTGGCAG	GRCh38
NC_000001.10:g.43395825_43395826insTGGCAG , CM000663.1:g.43395825_43395826insTGGCAG	GRCh37
NC_000001.9:g.43168412_43168413insTGGCAG	NCBI36
NG_008232.1:g.34024_34025insGCCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-118_517-117insGCCACT MANE Select	ENSP00000416293.2:n.517-118_517-117insGCCACT
ENST00000674765.1:c.517-118_517-117insGCCACT	ENSP00000501811.1:n.517-118_517-117insGCCACT
ENST00000675112.1:n.540-118_540-117insGCCACT
ENST00000676254.1:n.966-118_966-117insGCCACT
ENST00000426263.7:c.517-118_517-117insGCCACT	ENSP00000416293.2:n.517-118_517-117insGCCACT
ENST00000439722.2:c.396-118_396-117insGCCACT	ENSP00000395521.2:n.396-118_396-117insGCCACT
ENST00000475162.3:c.415+473_415+474insGCCACT
ENST00000630287.2:c.517-373_517-372insGCCACT	ENSP00000486694.1:n.517-373_517-372insGCCACT
NM_006516.2:c.517-118_517-117insGCCACT	NP_006507.2:n.517-118_517-117insGCCACT
NM_006516.3:c.517-118_517-117insGCCACT	NP_006507.2:n.517-118_517-117insGCCACT
NM_006516.4:c.517-118_517-117insGCCACT MANE Select	NP_006507.2:n.517-118_517-117insGCCACT