Canonical Allele Identifier: CA2668833286

Gene: THPO EIF2B5

Linked Data

• gnomAD v4: 3-184372900-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372902del , CM000665.2:g.184372902del	GRCh38
NC_000003.11:g.184090690del , CM000665.1:g.184090690del	GRCh37
NC_000003.10:g.185573384del	NCBI36
NG_012136.1:g.10244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1094del (THPO)	ENSP00000494281.2:p.Phe365SerfsTer9
ENST00000647395.1:c.674del (THPO) MANE Select	ENSP00000494504.1:p.Phe225SerfsTer9
ENST00000649095.1:c.1094del (THPO)	ENSP00000497904.1:p.Phe365SerfsTer9
ENST00000650229.1:c.657del (THPO)	ENSP00000497233.1:p.Gln220ArgfsTer?
ENST00000204615.11:c.674del (THPO)	ENSP00000204615.7:p.Phe225SerfsTer9
ENST00000421442.2:c.558del (THPO)	ENSP00000411704.2:p.Gln187ArgfsTer?
ENST00000444495.1:c.2106+228195del (EIF2B5)	ENSP00000409142.1:n.2106+228195del
ENST00000445696.6:c.662del (THPO)	ENSP00000410763.2:p.Phe221SerfsTer9
ENST00000477594.1:n.245del (THPO)
NM_000460.3:c.674del (THPO)	NP_000451.1:p.Phe225SerfsTer9
NM_001177597.2:c.662del (THPO)	NP_001171068.1:p.Phe221SerfsTer9
NM_001177598.2:c.657del (THPO)	NP_001171069.1:p.Gln220ArgfsTer?
NM_001289997.1:c.558del (THPO)	NP_001276926.1:p.Gln187ArgfsTer?
NM_001289998.1:c.674del (THPO)	NP_001276927.1:p.Phe225SerfsTer9
NM_001290003.1:c.1094del (THPO)	NP_001276932.1:p.Phe365SerfsTer9
NM_001290022.1:c.662del (THPO)	NP_001276951.1:p.Phe221SerfsTer9
NM_001290026.1:c.657del (THPO)	NP_001276955.1:p.Gln220ArgfsTer?
NM_001290027.1:c.558del (THPO)	NP_001276956.1:p.Gln187ArgfsTer?
NM_001290028.1:c.674del (THPO)	NP_001276957.1:p.Phe225SerfsTer9
XM_011513113.1:c.966del (THPO)	XP_011511415.1:p.Gln323ArgfsTer?
NM_000460.4:c.674del (THPO) MANE Select	NP_000451.1:p.Phe225SerfsTer9
XM_017007107.1:c.966del (THPO)	XP_016862596.1:p.Gln323ArgfsTer?