Canonical Allele Identifier: CA2645200533

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930685-G-GTATCATTAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930685_42930686insTATCATTAAAA , CM000663.2:g.42930685_42930686insTATCATTAAAA	GRCh38
NC_000001.10:g.43396356_43396357insTATCATTAAAA , CM000663.1:g.43396356_43396357insTATCATTAAAA	GRCh37
NC_000001.9:g.43168943_43168944insTATCATTAAAA	NCBI36
NG_008232.1:g.33491_33492insTTTTAATGATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.456_457insTTTTAATGATA MANE Select	ENSP00000416293.2:p.Arg153PhefsTer2
ENST00000674765.1:c.456_457insTTTTAATGATA	ENSP00000501811.1:p.Arg153PhefsTer2
ENST00000675112.1:n.479_480insTTTTAATGATA
ENST00000676254.1:n.905_906insTTTTAATGATA
ENST00000426263.7:c.456_457insTTTTAATGATA	ENSP00000416293.2:p.Arg153PhefsTer2
ENST00000439722.2:c.335_336insTTTTAATGATA	ENSP00000395521.2:n.335_336insTTTTAATGATA...
ENST00000475162.3:c.355_356insTTTTAATGATA
ENST00000625233.2:n.664_665insTTTTAATGATA
ENST00000630287.2:c.456_457insTTTTAATGATA	ENSP00000486694.1:p.Arg153PhefsTer2
NM_006516.2:c.456_457insTTTTAATGATA	NP_006507.2:p.Arg153PhefsTer2
NM_006516.3:c.456_457insTTTTAATGATA	NP_006507.2:p.Arg153PhefsTer2
NM_006516.4:c.456_457insTTTTAATGATA MANE Select	NP_006507.2:p.Arg153PhefsTer2