Canonical Allele Identifier: CA2668833599

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs2108618420
• gnomAD v4: 3-184373040-TGGGTGGGGCCCGCCTGACGCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373047_184373069del , CM000665.2:g.184373047_184373069del	GRCh38
NC_000003.11:g.184090835_184090857del , CM000665.1:g.184090835_184090857del	GRCh37
NC_000003.10:g.185573529_185573551del	NCBI36
NG_012136.1:g.10082_10104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.932_954del (THPO)	ENSP00000494281.2:p.Leu311HisfsTer?
ENST00000647395.1:c.512_534del (THPO) MANE Select	ENSP00000494504.1:p.Leu171HisfsTer?
ENST00000649095.1:c.932_954del (THPO)	ENSP00000497904.1:p.Leu311HisfsTer?
ENST00000650229.1:c.495_517del (THPO)	ENSP00000497233.1:p.Leu166ProfsTer10
ENST00000204615.11:c.512_534del (THPO)	ENSP00000204615.7:p.Leu171HisfsTer?
ENST00000421442.2:c.477+35_477+57del (THPO)	ENSP00000411704.2:n.477+35_477+57del
ENST00000444495.1:c.2106+228340_2106+228362del (EIF2B5)	ENSP00000409142.1:n.2106+228340_2106+228362del
ENST00000445696.6:c.500_522del (THPO)	ENSP00000410763.2:p.Leu167HisfsTer?
ENST00000477594.1:n.164+35_164+57del (THPO)
NM_000460.3:c.512_534del (THPO)	NP_000451.1:p.Leu171HisfsTer?
NM_001177597.2:c.500_522del (THPO)	NP_001171068.1:p.Leu167HisfsTer?
NM_001177598.2:c.495_517del (THPO)	NP_001171069.1:p.Leu166ProfsTer10
NM_001289997.1:c.477+35_477+57del (THPO)	NP_001276926.1:n.477+35_477+57del
NM_001289998.1:c.512_534del (THPO)	NP_001276927.1:p.Leu171HisfsTer?
NM_001290003.1:c.932_954del (THPO)	NP_001276932.1:p.Leu311HisfsTer?
NM_001290022.1:c.500_522del (THPO)	NP_001276951.1:p.Leu167HisfsTer?
NM_001290026.1:c.495_517del (THPO)	NP_001276955.1:p.Leu166ProfsTer10
NM_001290027.1:c.477+35_477+57del (THPO)	NP_001276956.1:n.477+35_477+57del
NM_001290028.1:c.512_534del (THPO)	NP_001276957.1:p.Leu171HisfsTer?
XM_011513113.1:c.885+35_885+57del (THPO)	XP_011511415.1:n.885+35_885+57del
NM_000460.4:c.512_534del (THPO) MANE Select	NP_000451.1:p.Leu171HisfsTer?
XM_017007107.1:c.885+35_885+57del (THPO)	XP_016862596.1:n.885+35_885+57del