Canonical Allele Identifier: CA2617355601

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870453-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870456del , CM000674.2:g.6870456del	GRCh38
NC_000012.11:g.6979620del , CM000674.1:g.6979620del	GRCh37
NC_000012.10:g.6849881del	NCBI36
NG_011948.1:g.8037del
NG_013308.1:g.7904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*73del MANE Select	ENSP00000379933.4:n.*73del
ENST00000229270.8:c.*73del	ENSP00000229270.4:n.*73del
ENST00000396705.9:c.*73del	ENSP00000379933.4:n.*73del
ENST00000474253.1:n.312del
ENST00000535434.5:c.*73del	ENSP00000443599.1:n.*73del
ENST00000613953.4:c.*73del	ENSP00000484435.1:n.*73del
NM_000365.5:c.*73del	NP_000356.1:n.*73del
NM_001159287.1:c.*73del	NP_001152759.1:n.*73del
NM_001258026.1:c.*73del	NP_001244955.1:n.*73del
XR_002957378.1:n.1831del
NM_000365.6:c.*73del MANE Select	NP_000356.1:n.*73del
NM_001258026.2:c.*73del	NP_001244955.1:n.*73del