Canonical Allele Identifier: CA2645199521

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930157-G-GCTCTGCCACTAGCATGAGCCCTGTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930161_42930186dup , CM000663.2:g.42930161_42930186dup	GRCh38
NC_000001.10:g.43395832_43395857dup , CM000663.1:g.43395832_43395857dup	GRCh37
NC_000001.9:g.43168419_43168444dup	NCBI36
NG_008232.1:g.33994_34019dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-148_517-123dup MANE Select	ENSP00000416293.2:n.517-148_517-123dup
ENST00000674765.1:c.517-148_517-123dup	ENSP00000501811.1:n.517-148_517-123dup
ENST00000675112.1:n.540-148_540-123dup
ENST00000676254.1:n.966-148_966-123dup
ENST00000426263.7:c.517-148_517-123dup	ENSP00000416293.2:n.517-148_517-123dup
ENST00000439722.2:c.396-148_396-123dup	ENSP00000395521.2:n.396-148_396-123dup
ENST00000475162.3:c.415+443_415+468dup
ENST00000630287.2:c.517-403_517-378dup	ENSP00000486694.1:n.517-403_517-378dup
NM_006516.2:c.517-148_517-123dup	NP_006507.2:n.517-148_517-123dup
NM_006516.3:c.517-148_517-123dup	NP_006507.2:n.517-148_517-123dup
NM_006516.4:c.517-148_517-123dup MANE Select	NP_006507.2:n.517-148_517-123dup