Canonical Allele Identifier: CA6418859

Gene: TPI1

Linked Data

• dbSNP Id: rs782113788
• ExAC: 12:6978032 GGTTTGTGC / G
• gnomAD v2: 12-6978032-GGTTTGTGC-G
• gnomAD v3: 12-6868868-GGTTTGTGC-G
• gnomAD v4: 12-6868868-GGTTTGTGC-G
• MyVariant Identifiers: chr12:g.6978033_6978040del (hg19) ; chr12:g.6868869_6868876del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6868869_6868876del , CM000674.2:g.6868869_6868876del	GRCh38
NC_000012.11:g.6978033_6978040del , CM000674.1:g.6978033_6978040del	GRCh37
NC_000012.10:g.6848294_6848301del	NCBI36
NG_011948.1:g.6450_6457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.121_128del MANE Select	ENSP00000379933.4:p.Val41SerfsTer29
ENST00000229270.8:c.232_239del	ENSP00000229270.4:p.Val78SerfsTer29
ENST00000396705.9:c.121_128del	ENSP00000379933.4:p.Val41SerfsTer29
ENST00000462761.5:c.-126_-119del	ENSP00000475184.1:n.-126_-119del
ENST00000488464.6:c.-126_-119del	ENSP00000475620.1:n.-126_-119del
ENST00000493987.5:c.-126_-119del	ENSP00000475364.1:n.-126_-119del
ENST00000495834.1:c.-126_-119del	ENSP00000475829.1:n.-126_-119del
ENST00000535434.5:c.-126_-119del	ENSP00000443599.1:n.-126_-119del
ENST00000613953.4:c.232_239del	ENSP00000484435.1:p.Val78SerfsTer29
NM_000365.5:c.121_128del	NP_000356.1:p.Val41SerfsTer29
NM_001159287.1:c.232_239del	NP_001152759.1:p.Val78SerfsTer29
NM_001258026.1:c.-126_-119del	NP_001244955.1:n.-126_-119del
XR_002957378.1:n.854_861del
NM_000365.6:c.121_128del MANE Select	NP_000356.1:p.Val41SerfsTer29
NM_001258026.2:c.-126_-119del	NP_001244955.1:n.-126_-119del