Canonical Allele Identifier: CA2617355721

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870511-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870513_6870514del , CM000674.2:g.6870513_6870514del	GRCh38
NC_000012.11:g.6979677_6979678del , CM000674.1:g.6979677_6979678del	GRCh37
NC_000012.10:g.6849938_6849939del	NCBI36
NG_011948.1:g.8094_8095del
NG_013308.1:g.7845_7846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*130_*131del MANE Select	ENSP00000379933.4:n.*130_*131del
ENST00000229270.8:c.*130_*131del	ENSP00000229270.4:n.*130_*131del
ENST00000396705.9:c.*130_*131del	ENSP00000379933.4:n.*130_*131del
ENST00000474253.1:n.369_370del
ENST00000535434.5:c.*130_*131del	ENSP00000443599.1:n.*130_*131del
ENST00000613953.4:c.*130_*131del	ENSP00000484435.1:n.*130_*131del
NM_000365.5:c.*130_*131del	NP_000356.1:n.*130_*131del
NM_001159287.1:c.*130_*131del	NP_001152759.1:n.*130_*131del
NM_001258026.1:c.*130_*131del	NP_001244955.1:n.*130_*131del
XR_002957378.1:n.1888_1889del
NM_000365.6:c.*130_*131del MANE Select	NP_000356.1:n.*130_*131del
NM_001258026.2:c.*130_*131del	NP_001244955.1:n.*130_*131del