Canonical Allele Identifier: CA603133038

Gene: TPI1

Linked Data

• dbSNP Id: rs1163707622
• gnomAD v2: 12-6979792-TGA-T
• gnomAD v3: 12-6870628-TGA-T
• gnomAD v4: 12-6870628-TGA-T
• MyVariant Identifiers: chr12:g.6979793_6979794del (hg19) ; chr12:g.6870629_6870630del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870633_6870634del , CM000674.2:g.6870633_6870634del	GRCh38
NC_000012.11:g.6979797_6979798del , CM000674.1:g.6979797_6979798del	GRCh37
NC_000012.10:g.6850058_6850059del	NCBI36
NG_011948.1:g.8214_8215del
NG_013308.1:g.7728_7729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*250_*251del MANE Select	ENSP00000379933.4:n.*250_*251del
ENST00000229270.8:c.*250_*251del	ENSP00000229270.4:n.*250_*251del
ENST00000396705.9:c.*250_*251del	ENSP00000379933.4:n.*250_*251del
ENST00000535434.5:c.*250_*251del	ENSP00000443599.1:n.*250_*251del
ENST00000613953.4:c.*250_*251del	ENSP00000484435.1:n.*250_*251del
NM_000365.5:c.*250_*251del	NP_000356.1:n.*250_*251del
NM_001159287.1:c.*250_*251del	NP_001152759.1:n.*250_*251del
NM_001258026.1:c.*250_*251del	NP_001244955.1:n.*250_*251del
XR_002957378.1:n.2008_2009del
NM_000365.6:c.*250_*251del MANE Select	NP_000356.1:n.*250_*251del
NM_001258026.2:c.*250_*251del	NP_001244955.1:n.*250_*251del