Canonical Allele Identifier: CA6418978

Gene: TPI1

Linked Data

• dbSNP Id: rs782474817
• ExAC: 12:6979168 TAGAG / T
• gnomAD v2: 12-6979168-TAGAG-T
• gnomAD v4: 12-6870004-TAGAG-T
• MyVariant Identifiers: chr12:g.6979169_6979172del (hg19) ; chr12:g.6870006_6870009del (hg38) ; chr12:g.6870005_6870008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870007_6870010del , CM000674.2:g.6870007_6870010del	GRCh38
NC_000012.11:g.6979171_6979174del , CM000674.1:g.6979171_6979174del	GRCh37
NC_000012.10:g.6849432_6849435del	NCBI36
NG_011948.1:g.7588_7591del
NG_013308.1:g.8350_8353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.544-42_544-39del MANE Select	ENSP00000379933.4:n.544-42_544-39del
ENST00000229270.8:c.655-42_655-39del	ENSP00000229270.4:n.655-42_655-39del
ENST00000396705.9:c.544-42_544-39del	ENSP00000379933.4:n.544-42_544-39del
ENST00000482209.1:n.227-29_227-26del
ENST00000488464.6:c.298-42_298-39del	ENSP00000475620.1:n.298-42_298-39del
ENST00000493987.5:c.298-42_298-39del	ENSP00000475364.1:n.298-42_298-39del
ENST00000535434.5:c.298-42_298-39del	ENSP00000443599.1:n.298-42_298-39del
ENST00000613953.4:c.655-42_655-39del	ENSP00000484435.1:n.655-42_655-39del
NM_000365.5:c.544-42_544-39del	NP_000356.1:n.544-42_544-39del
NM_001159287.1:c.655-42_655-39del	NP_001152759.1:n.655-42_655-39del
NM_001258026.1:c.298-42_298-39del	NP_001244955.1:n.298-42_298-39del
XR_002957378.1:n.1510_1513del
NM_000365.6:c.544-42_544-39del MANE Select	NP_000356.1:n.544-42_544-39del
NM_001258026.2:c.298-42_298-39del	NP_001244955.1:n.298-42_298-39del