Canonical Allele Identifier: CA2645199525

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930160-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930160_42930161insA , CM000663.2:g.42930160_42930161insA	GRCh38
NC_000001.10:g.43395831_43395832insA , CM000663.1:g.43395831_43395832insA	GRCh37
NC_000001.9:g.43168418_43168419insA	NCBI36
NG_008232.1:g.34016_34017insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-126_517-125insT MANE Select	ENSP00000416293.2:n.517-126_517-125insT
ENST00000674765.1:c.517-126_517-125insT	ENSP00000501811.1:n.517-126_517-125insT
ENST00000675112.1:n.540-126_540-125insT
ENST00000676254.1:n.966-126_966-125insT
ENST00000426263.7:c.517-126_517-125insT	ENSP00000416293.2:n.517-126_517-125insT
ENST00000439722.2:c.396-126_396-125insT	ENSP00000395521.2:n.396-126_396-125insT
ENST00000475162.3:c.415+465_415+466insT
ENST00000630287.2:c.517-381_517-380insT	ENSP00000486694.1:n.517-381_517-380insT
NM_006516.2:c.517-126_517-125insT	NP_006507.2:n.517-126_517-125insT
NM_006516.3:c.517-126_517-125insT	NP_006507.2:n.517-126_517-125insT
NM_006516.4:c.517-126_517-125insT MANE Select	NP_006507.2:n.517-126_517-125insT