Canonical Allele Identifier: CA944389884

Gene: TPI1

Linked Data

• dbSNP Id: rs1944567733
• gnomAD v3: 12-6870642-CGTG-C
• gnomAD v4: 12-6870642-CGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870647_6870649del , CM000674.2:g.6870647_6870649del	GRCh38
NC_000012.11:g.6979811_6979813del , CM000674.1:g.6979811_6979813del	GRCh37
NC_000012.10:g.6850072_6850074del	NCBI36
NG_011948.1:g.8228_8230del
NG_013308.1:g.7713_7715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*264_*266del MANE Select	ENSP00000379933.4:n.*264_*266del
ENST00000229270.8:c.*264_*266del	ENSP00000229270.4:n.*264_*266del
ENST00000396705.9:c.*264_*266del	ENSP00000379933.4:n.*264_*266del
ENST00000535434.5:c.*264_*266del	ENSP00000443599.1:n.*264_*266del
ENST00000613953.4:c.*264_*266del	ENSP00000484435.1:n.*264_*266del
NM_000365.5:c.*264_*266del	NP_000356.1:n.*264_*266del
NM_001159287.1:c.*264_*266del	NP_001152759.1:n.*264_*266del
NM_001258026.1:c.*264_*266del	NP_001244955.1:n.*264_*266del
XR_002957378.1:n.2022_2024del
NM_000365.6:c.*264_*266del MANE Select	NP_000356.1:n.*264_*266del
NM_001258026.2:c.*264_*266del	NP_001244955.1:n.*264_*266del