Canonical Allele Identifier: CA6419021

Gene: TPI1

Linked Data

• dbSNP Id: rs782681438
• ExAC: 12:6979382 AGACTCATCCCATTCTT / A
• gnomAD v2: 12-6979382-AGACTCATCCCATTCTT-A
• MyVariant Identifiers: chr12:g.6979383_6979398del (hg19) ; chr12:g.6870219_6870234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870222_6870237del , CM000674.2:g.6870222_6870237del	GRCh38
NC_000012.11:g.6979386_6979401del , CM000674.1:g.6979386_6979401del	GRCh37
NC_000012.10:g.6849647_6849662del	NCBI36
NG_011948.1:g.7803_7818del
NG_013308.1:g.8124_8139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.632-43_632-28del MANE Select	ENSP00000379933.4:n.632-43_632-28del
ENST00000229270.8:c.743-43_743-28del	ENSP00000229270.4:n.743-43_743-28del
ENST00000396705.9:c.632-43_632-28del	ENSP00000379933.4:n.632-43_632-28del
ENST00000474253.1:n.121-43_121-28del
ENST00000488464.6:c.386-43_386-28del	ENSP00000475620.1:n.386-43_386-28del
ENST00000535434.5:c.386-43_386-28del	ENSP00000443599.1:n.386-43_386-28del
ENST00000613953.4:c.743-43_743-28del	ENSP00000484435.1:n.743-43_743-28del
NM_000365.5:c.632-43_632-28del	NP_000356.1:n.632-43_632-28del
NM_001159287.1:c.743-43_743-28del	NP_001152759.1:n.743-43_743-28del
NM_001258026.1:c.386-43_386-28del	NP_001244955.1:n.386-43_386-28del
XR_002957378.1:n.1640-43_1640-28del
NM_000365.6:c.632-43_632-28del MANE Select	NP_000356.1:n.632-43_632-28del
NM_001258026.2:c.386-43_386-28del	NP_001244955.1:n.386-43_386-28del