Canonical Allele Identifier: CA1165411549

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927720_42927725delinsCATGGG , CM000663.2:g.42927720_42927725delinsCATGGG	GRCh38
NC_000001.10:g.43393391_43393396delinsCATGGG , CM000663.1:g.43393391_43393396delinsCATGGG	GRCh37
NC_000001.9:g.43165978_43165983delinsCATGGG	NCBI36
NG_008232.1:g.36452_36457delinsCCCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1158_1163delinsCCCATG MANE Select	ENSP00000416293.2:p.Ile386=
ENST00000674545.1:n.1775_1780delinsCCCATG
ENST00000674765.1:c.1030-868_1030-863delinsCCCATG	ENSP00000501811.1:n.1030-868_1030-863delinsCCCATG
ENST00000675112.1:n.1459_1464delinsCCCATG
ENST00000676254.1:n.1607_1612delinsCCCATG
ENST00000426263.7:c.1158_1163delinsCCCATG	ENSP00000416293.2:p.Ile386=
ENST00000475162.3:c.416-747_416-742delinsCCCATG
ENST00000630287.2:c.*473_*478delinsCCCATG	ENSP00000486694.1:n.*473_*478delinsCCCATG
NM_006516.2:c.1158_1163delinsCCCATG	NP_006507.2:p.Ile386=
NM_006516.3:c.1158_1163delinsCCCATG	NP_006507.2:p.Ile386=
NM_006516.4:c.1158_1163delinsCCCATG MANE Select	NP_006507.2:p.Ile386=