Canonical Allele Identifier: CA318483

Gene: SLC2A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930013del , CM000663.2:g.42930013del	GRCh38
NC_000001.10:g.43395684del , CM000663.1:g.43395684del	GRCh37
NC_000001.9:g.43168271del	NCBI36
NG_008232.1:g.34164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.539del MANE Select	ENSP00000416293.2:p.Met180ArgfsTer11
ENST00000674765.1:c.539del	ENSP00000501811.1:p.Met180ArgfsTer11
ENST00000675112.1:n.562del
ENST00000676254.1:n.988del
ENST00000426263.7:c.539del	ENSP00000416293.2:p.Met180ArgfsTer11
ENST00000439722.2:c.418del	ENSP00000395521.2:n.418del
ENST00000475162.3:c.415+613del
ENST00000630287.2:c.517-233del	ENSP00000486694.1:n.517-233del
NM_006516.2:c.539del	NP_006507.2:p.Met180ArgfsTer11
NM_006516.3:c.539del	NP_006507.2:p.Met180ArgfsTer11
NM_006516.4:c.539del MANE Select	NP_006507.2:p.Met180ArgfsTer11