Canonical Allele Identifier: CA548796330

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs1560282956
• gnomAD v2: 3-184090920-A-AT
• gnomAD v4: 3-184373132-A-AT
• MyVariant Identifiers: chr3:g.184090920_184090921insT (hg19) ; chr3:g.184373132_184373133insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373133dup , CM000665.2:g.184373133dup	GRCh38
NC_000003.11:g.184090921dup , CM000665.1:g.184090921dup	GRCh37
NC_000003.10:g.185573615dup	NCBI36
NG_012136.1:g.10012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.862dup (THPO)	ENSP00000494281.2:p.Ile288AsnfsTer?
ENST00000647395.1:c.442dup (THPO) MANE Select	ENSP00000494504.1:p.Ile148AsnfsTer?
ENST00000649095.1:c.862dup (THPO)	ENSP00000497904.1:p.Ile288AsnfsTer?
ENST00000650229.1:c.425dup (THPO)	ENSP00000497233.1:p.His142GlnfsTer4
ENST00000204615.11:c.442dup (THPO)	ENSP00000204615.7:p.Ile148AsnfsTer?
ENST00000421442.2:c.442dup (THPO)	ENSP00000411704.2:p.Ile148AsnfsTer?
ENST00000444495.1:c.2106+228426dup (EIF2B5)	ENSP00000409142.1:n.2106+228426dup
ENST00000445696.6:c.430dup (THPO)	ENSP00000410763.2:p.Ile144AsnfsTer?
ENST00000477594.1:n.129dup (THPO)
NM_000460.3:c.442dup (THPO)	NP_000451.1:p.Ile148AsnfsTer?
NM_001177597.2:c.430dup (THPO)	NP_001171068.1:p.Ile144AsnfsTer?
NM_001177598.2:c.425dup (THPO)	NP_001171069.1:p.His142GlnfsTer4
NM_001289997.1:c.442dup (THPO)	NP_001276926.1:p.Ile148AsnfsTer?
NM_001289998.1:c.442dup (THPO)	NP_001276927.1:p.Ile148AsnfsTer?
NM_001290003.1:c.862dup (THPO)	NP_001276932.1:p.Ile288AsnfsTer?
NM_001290022.1:c.430dup (THPO)	NP_001276951.1:p.Ile144AsnfsTer?
NM_001290026.1:c.425dup (THPO)	NP_001276955.1:p.His142GlnfsTer4
NM_001290027.1:c.442dup (THPO)	NP_001276956.1:p.Ile148AsnfsTer?
NM_001290028.1:c.442dup (THPO)	NP_001276957.1:p.Ile148AsnfsTer?
XM_011513113.1:c.850dup (THPO)	XP_011511415.1:p.Ile284AsnfsTer?
NM_000460.4:c.442dup (THPO) MANE Select	NP_000451.1:p.Ile148AsnfsTer?
XM_017007107.1:c.850dup (THPO)	XP_016862596.1:p.Ile284AsnfsTer?