Canonical Allele Identifier: CA2617352503

Gene: TPI1

Linked Data

• gnomAD v4: 12-6868879-CCCCTACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6868880_6868886del , CM000674.2:g.6868880_6868886del	GRCh38
NC_000012.11:g.6978044_6978050del , CM000674.1:g.6978044_6978050del	GRCh37
NC_000012.10:g.6848305_6848311del	NCBI36
NG_011948.1:g.6461_6467del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.132_138del MANE Select	ENSP00000379933.4:p.Thr46IlefsTer9
ENST00000229270.8:c.243_249del	ENSP00000229270.4:p.Thr83IlefsTer9
ENST00000396705.9:c.132_138del	ENSP00000379933.4:p.Thr46IlefsTer9
ENST00000462761.5:c.-115_-109del	ENSP00000475184.1:n.-115_-109del
ENST00000488464.6:c.-115_-109del	ENSP00000475620.1:n.-115_-109del
ENST00000493987.5:c.-115_-109del	ENSP00000475364.1:n.-115_-109del
ENST00000495834.1:c.-115_-109del	ENSP00000475829.1:n.-115_-109del
ENST00000535434.5:c.-115_-109del	ENSP00000443599.1:n.-115_-109del
ENST00000613953.4:c.243_249del	ENSP00000484435.1:p.Thr83IlefsTer9
NM_000365.5:c.132_138del	NP_000356.1:p.Thr46IlefsTer9
NM_001159287.1:c.243_249del	NP_001152759.1:p.Thr83IlefsTer9
NM_001258026.1:c.-115_-109del	NP_001244955.1:n.-115_-109del
XR_002957378.1:n.865_871del
NM_000365.6:c.132_138del MANE Select	NP_000356.1:p.Thr46IlefsTer9
NM_001258026.2:c.-115_-109del	NP_001244955.1:n.-115_-109del