Canonical Allele Identifier: CA2617355149

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870275-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870279del , CM000674.2:g.6870279del	GRCh38
NC_000012.11:g.6979443del , CM000674.1:g.6979443del	GRCh37
NC_000012.10:g.6849704del	NCBI36
NG_011948.1:g.7860del
NG_013308.1:g.8082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.646del MANE Select	ENSP00000379933.4:p.Ala216GlnfsTer?
ENST00000229270.8:c.757del	ENSP00000229270.4:p.Ala253GlnfsTer?
ENST00000396705.9:c.646del	ENSP00000379933.4:p.Ala216GlnfsTer?
ENST00000474253.1:n.135del
ENST00000488464.6:c.400del	ENSP00000475620.1:p.Ala134GlnfsTer?
ENST00000535434.5:c.400del	ENSP00000443599.1:p.Ala134GlnfsTer?
ENST00000613953.4:c.757del	ENSP00000484435.1:p.Ala253GlnfsTer?
NM_000365.5:c.646del	NP_000356.1:p.Ala216GlnfsTer?
NM_001159287.1:c.757del	NP_001152759.1:p.Ala253GlnfsTer?
NM_001258026.1:c.400del	NP_001244955.1:p.Ala134GlnfsTer?
XR_002957378.1:n.1654del
NM_000365.6:c.646del MANE Select	NP_000356.1:p.Ala216GlnfsTer?
NM_001258026.2:c.400del	NP_001244955.1:p.Ala134GlnfsTer?