Canonical Allele Identifier: CA1165412467
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929976_42929978delinsGAT , CM000663.2:g.42929976_42929978delinsGAT GRCh38
NC_000001.10:g.43395647_43395649delinsGAT , CM000663.1:g.43395647_43395649delinsGAT GRCh37
NC_000001.9:g.43168234_43168236delinsGAT NCBI36
NG_008232.1:g.34199_34201delinsATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.574_576delinsATC MANE Select ENSP00000416293.2:p.Ile192=
ENST00000674765.1:c.574_576delinsATC ENSP00000501811.1:p.Ile192=
ENST00000675112.1:n.597_599delinsATC
ENST00000676254.1:n.1023_1025delinsATC
ENST00000426263.7:c.574_576delinsATC ENSP00000416293.2:p.Ile192=
ENST00000439722.2:c.453_455delinsATC ENSP00000395521.2:n.453_455delinsATC
ENST00000475162.3:c.415+648_415+650delinsATC
ENST00000630287.2:c.517-198_517-196delinsATC ENSP00000486694.1:n.517-198_517-196delinsATC
NM_006516.2:c.574_576delinsATC NP_006507.2:p.Ile192=
NM_006516.3:c.574_576delinsATC NP_006507.2:p.Ile192=
NM_006516.4:c.574_576delinsATC MANE Select NP_006507.2:p.Ile192=