Canonical Allele Identifier: CA2668525118

Gene: SLC2A2

Linked Data

• gnomAD v4: 3-171007063-ACAGTAGGGGATGCAATAGTAGTAGTGGTACTGTAGAGGATGAAGTAGATGGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007075_171007128del , CM000665.2:g.171007075_171007128del	GRCh38
NC_000003.11:g.170724864_170724917del , CM000665.1:g.170724864_170724917del	GRCh37
NC_000003.10:g.172207558_172207611del	NCBI36
NG_008108.1:g.24863_24916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.612+31_612+84del MANE Select	ENSP00000323568.3:n.612+31_612+84del
ENST00000314251.7:c.612+31_612+84del	ENSP00000323568.3:n.612+31_612+84del
ENST00000461867.1:c.93+31_93+84del	ENSP00000418888.1:n.93+31_93+84del
ENST00000469787.1:c.*79+31_*79+84del	ENSP00000417918.1:n.*79+31_*79+84del
ENST00000471379.1:n.323+31_323+84del
ENST00000497642.5:c.*79+31_*79+84del	ENSP00000418456.1:n.*79+31_*79+84del
NM_000340.1:c.612+31_612+84del	NP_000331.1:n.612+31_612+84del
NM_001278658.1:c.255+31_255+84del	NP_001265587.1:n.255+31_255+84del
NM_001278659.1:c.93+31_93+84del	NP_001265588.1:n.93+31_93+84del
XM_011513087.1:c.567+31_567+84del	XP_011511389.1:n.567+31_567+84del
XM_011513088.1:c.393+31_393+84del	XP_011511390.1:n.393+31_393+84del
XM_011513089.1:c.93+31_93+84del	XP_011511391.1:n.93+31_93+84del
XM_011513087.2:c.567+31_567+84del	XP_011511389.1:n.567+31_567+84del
XM_024453720.1:c.93+31_93+84del	XP_024309488.1:n.93+31_93+84del
NM_000340.2:c.612+31_612+84del MANE Select	NP_000331.1:n.612+31_612+84del
NM_001278658.2:c.255+31_255+84del	NP_001265587.1:n.255+31_255+84del
NM_001278659.2:c.93+31_93+84del	NP_001265588.1:n.93+31_93+84del