Canonical Allele Identifier: CA2617354164

Gene: TPI1

Linked Data

• gnomAD v4: 12-6869888-GACAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6869889_6869893del , CM000674.2:g.6869889_6869893del	GRCh38
NC_000012.11:g.6979053_6979057del , CM000674.1:g.6979053_6979057del	GRCh37
NC_000012.10:g.6849314_6849318del	NCBI36
NG_011948.1:g.7470_7474del
NG_013308.1:g.8465_8469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.543+116_543+120del MANE Select	ENSP00000379933.4:n.543+116_543+120del
ENST00000229270.8:c.654+116_654+120del	ENSP00000229270.4:n.654+116_654+120del
ENST00000396705.9:c.543+116_543+120del	ENSP00000379933.4:n.543+116_543+120del
ENST00000482209.1:n.226+116_226+120del
ENST00000488464.6:c.297+116_297+120del	ENSP00000475620.1:n.297+116_297+120del
ENST00000493987.5:c.297+116_297+120del	ENSP00000475364.1:n.297+116_297+120del
ENST00000535434.5:c.297+116_297+120del	ENSP00000443599.1:n.297+116_297+120del
ENST00000613953.4:c.654+116_654+120del	ENSP00000484435.1:n.654+116_654+120del
NM_000365.5:c.543+116_543+120del	NP_000356.1:n.543+116_543+120del
NM_001159287.1:c.654+116_654+120del	NP_001152759.1:n.654+116_654+120del
NM_001258026.1:c.297+116_297+120del	NP_001244955.1:n.297+116_297+120del
XR_002957378.1:n.1392_1396del
NM_000365.6:c.543+116_543+120del MANE Select	NP_000356.1:n.543+116_543+120del
NM_001258026.2:c.297+116_297+120del	NP_001244955.1:n.297+116_297+120del