Canonical Allele Identifier: CA2704721356

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs371189857

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184375648_184375649del , CM000665.2:g.184375648_184375649del	GRCh38
NC_000003.11:g.184093436_184093437del , CM000665.1:g.184093436_184093437del	GRCh37
NC_000003.10:g.185576130_185576131del	NCBI36
NG_012136.1:g.7502_7503del
NG_029559.1:g.576_577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.562-42_562-41del (THPO)	ENSP00000494281.2:n.562-42_562-41del
ENST00000647395.1:c.142-42_142-41del (THPO) MANE Select	ENSP00000494504.1:n.142-42_142-41del
ENST00000649095.1:c.562-42_562-41del (THPO)	ENSP00000497904.1:n.562-42_562-41del
ENST00000650229.1:c.142-42_142-41del (THPO)	ENSP00000497233.1:n.142-42_142-41del
ENST00000204615.11:c.142-42_142-41del (THPO)	ENSP00000204615.7:n.142-42_142-41del
ENST00000421442.2:c.142-42_142-41del (THPO)	ENSP00000411704.2:n.142-42_142-41del
ENST00000444495.1:c.2106+230941_2106+230942del (EIF2B5)	ENSP00000409142.1:n.2106+230941_2106+230942del
ENST00000445696.6:c.142-42_142-41del (THPO)	ENSP00000410763.2:n.142-42_142-41del
NM_000460.3:c.142-42_142-41del (THPO)	NP_000451.1:n.142-42_142-41del
NM_001177597.2:c.142-42_142-41del (THPO)	NP_001171068.1:n.142-42_142-41del
NM_001177598.2:c.142-42_142-41del (THPO)	NP_001171069.1:n.142-42_142-41del
NM_001289997.1:c.142-42_142-41del (THPO)	NP_001276926.1:n.142-42_142-41del
NM_001289998.1:c.142-42_142-41del (THPO)	NP_001276927.1:n.142-42_142-41del
NM_001290003.1:c.562-42_562-41del (THPO)	NP_001276932.1:n.562-42_562-41del
NM_001290022.1:c.142-42_142-41del (THPO)	NP_001276951.1:n.142-42_142-41del
NM_001290026.1:c.142-42_142-41del (THPO)	NP_001276955.1:n.142-42_142-41del
NM_001290027.1:c.142-42_142-41del (THPO)	NP_001276956.1:n.142-42_142-41del
NM_001290028.1:c.142-42_142-41del (THPO)	NP_001276957.1:n.142-42_142-41del
XM_011513113.1:c.562-42_562-41del (THPO)	XP_011511415.1:n.562-42_562-41del
NM_000460.4:c.142-42_142-41del (THPO) MANE Select	NP_000451.1:n.142-42_142-41del
XM_017007107.1:c.562-42_562-41del (THPO)	XP_016862596.1:n.562-42_562-41del