Canonical Allele Identifier: CA1425997883

Gene: THPO EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372943_184372944delinsGC , CM000665.2:g.184372943_184372944delinsGC	GRCh38
NC_000003.11:g.184090731_184090732delinsGC , CM000665.1:g.184090731_184090732delinsGC	GRCh37
NC_000003.10:g.185573425_185573426delinsGC	NCBI36
NG_012136.1:g.10201_10202delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1051_1052delinsGC (THPO)	ENSP00000494281.2:p.Ala351=
ENST00000647395.1:c.631_632delinsGC (THPO) MANE Select	ENSP00000494504.1:p.Ala211=
ENST00000649095.1:c.1051_1052delinsGC (THPO)	ENSP00000497904.1:p.Ala351=
ENST00000650229.1:c.614_615delinsGC (THPO)	ENSP00000497233.1:p.Ser205=
ENST00000204615.11:c.631_632delinsGC (THPO)	ENSP00000204615.7:p.Ala211=
ENST00000421442.2:c.515_516delinsGC (THPO)	ENSP00000411704.2:p.Ser172=
ENST00000444495.1:c.2106+228236_2106+228237delinsGC (EIF2B5)	ENSP00000409142.1:n.2106+228236_2106+228237delinsGC
ENST00000445696.6:c.619_620delinsGC (THPO)	ENSP00000410763.2:p.Ala207=
ENST00000477594.1:n.202_203delinsGC (THPO)
NM_000460.3:c.631_632delinsGC (THPO)	NP_000451.1:p.Ala211=
NM_001177597.2:c.619_620delinsGC (THPO)	NP_001171068.1:p.Ala207=
NM_001177598.2:c.614_615delinsGC (THPO)	NP_001171069.1:p.Ser205=
NM_001289997.1:c.515_516delinsGC (THPO)	NP_001276926.1:p.Ser172=
NM_001289998.1:c.631_632delinsGC (THPO)	NP_001276927.1:p.Ala211=
NM_001290003.1:c.1051_1052delinsGC (THPO)	NP_001276932.1:p.Ala351=
NM_001290022.1:c.619_620delinsGC (THPO)	NP_001276951.1:p.Ala207=
NM_001290026.1:c.614_615delinsGC (THPO)	NP_001276955.1:p.Ser205=
NM_001290027.1:c.515_516delinsGC (THPO)	NP_001276956.1:p.Ser172=
NM_001290028.1:c.631_632delinsGC (THPO)	NP_001276957.1:p.Ala211=
XM_011513113.1:c.923_924delinsGC (THPO)	XP_011511415.1:p.Ser308=
NM_000460.4:c.631_632delinsGC (THPO) MANE Select	NP_000451.1:p.Ala211=
XM_017007107.1:c.923_924delinsGC (THPO)	XP_016862596.1:p.Ser308=