Canonical Allele Identifier: CA2575062152

Gene: TPI1

Linked Data

• ClinVar Variation Id: 2018613
• ClinVar RCV Id: RCV002862115

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870377_6870380del , CM000674.2:g.6870377_6870380del	GRCh38
NC_000012.11:g.6979541_6979544del , CM000674.1:g.6979541_6979544del	GRCh37
NC_000012.10:g.6849802_6849805del	NCBI36
NG_011948.1:g.7958_7961del
NG_013308.1:g.7981_7984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.744_747del MANE Select	ENSP00000379933.4:p.Lys248AsnfsTer23
ENST00000229270.8:c.855_858del	ENSP00000229270.4:p.Lys285AsnfsTer23
ENST00000396705.9:c.744_747del	ENSP00000379933.4:p.Lys248AsnfsTer23
ENST00000474253.1:n.233_236del
ENST00000488464.6:c.498_501del	ENSP00000475620.1:p.Lys166AsnfsTer?
ENST00000535434.5:c.498_501del	ENSP00000443599.1:p.Lys166AsnfsTer23
ENST00000613953.4:c.855_858del	ENSP00000484435.1:p.Lys285AsnfsTer23
NM_000365.5:c.744_747del	NP_000356.1:p.Lys248AsnfsTer23
NM_001159287.1:c.855_858del	NP_001152759.1:p.Lys285AsnfsTer23
NM_001258026.1:c.498_501del	NP_001244955.1:p.Lys166AsnfsTer23
XR_002957378.1:n.1752_1755del
NM_000365.6:c.744_747del MANE Select	NP_000356.1:p.Lys248AsnfsTer23
NM_001258026.2:c.498_501del	NP_001244955.1:p.Lys166AsnfsTer23