Canonical Allele Identifier: CA2617355115

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870265-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870268_6870269del , CM000674.2:g.6870268_6870269del	GRCh38
NC_000012.11:g.6979432_6979433del , CM000674.1:g.6979432_6979433del	GRCh37
NC_000012.10:g.6849693_6849694del	NCBI36
NG_011948.1:g.7849_7850del
NG_013308.1:g.8091_8092del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.635_636del MANE Select	ENSP00000379933.4:p.Ser212CysfsTer14
ENST00000229270.8:c.746_747del	ENSP00000229270.4:p.Ser249CysfsTer14
ENST00000396705.9:c.635_636del	ENSP00000379933.4:p.Ser212CysfsTer14
ENST00000474253.1:n.124_125del
ENST00000488464.6:c.389_390del	ENSP00000475620.1:p.Ser130CysfsTer14
ENST00000535434.5:c.389_390del	ENSP00000443599.1:p.Ser130CysfsTer14
ENST00000613953.4:c.746_747del	ENSP00000484435.1:p.Ser249CysfsTer14
NM_000365.5:c.635_636del	NP_000356.1:p.Ser212CysfsTer14
NM_001159287.1:c.746_747del	NP_001152759.1:p.Ser249CysfsTer14
NM_001258026.1:c.389_390del	NP_001244955.1:p.Ser130CysfsTer14
XR_002957378.1:n.1643_1644del
NM_000365.6:c.635_636del MANE Select	NP_000356.1:p.Ser212CysfsTer14
NM_001258026.2:c.389_390del	NP_001244955.1:p.Ser130CysfsTer14