Canonical Allele Identifier: CA2575062151

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870295-T-TGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870296_6870299dup , CM000674.2:g.6870296_6870299dup	GRCh38
NC_000012.11:g.6979460_6979463dup , CM000674.1:g.6979460_6979463dup	GRCh37
NC_000012.10:g.6849721_6849724dup	NCBI36
NG_011948.1:g.7877_7880dup
NG_013308.1:g.8059_8062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.663_666dup MANE Select	ENSP00000379933.4:p.Ser223GlyfsTer5
ENST00000229270.8:c.774_777dup	ENSP00000229270.4:p.Ser260GlyfsTer5
ENST00000396705.9:c.663_666dup	ENSP00000379933.4:p.Ser223GlyfsTer5
ENST00000474253.1:n.152_155dup
ENST00000488464.6:c.417_420dup	ENSP00000475620.1:p.Ser141GlyfsTer5
ENST00000535434.5:c.417_420dup	ENSP00000443599.1:p.Ser141GlyfsTer5
ENST00000613953.4:c.774_777dup	ENSP00000484435.1:p.Ser260GlyfsTer5
NM_000365.5:c.663_666dup	NP_000356.1:p.Ser223GlyfsTer5
NM_001159287.1:c.774_777dup	NP_001152759.1:p.Ser260GlyfsTer5
NM_001258026.1:c.417_420dup	NP_001244955.1:p.Ser141GlyfsTer5
XR_002957378.1:n.1671_1674dup
NM_000365.6:c.663_666dup MANE Select	NP_000356.1:p.Ser223GlyfsTer5
NM_001258026.2:c.417_420dup	NP_001244955.1:p.Ser141GlyfsTer5