Canonical Allele Identifier: CA548795854

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs1412520286
• gnomAD v2: 3-184090804-AG-A
• gnomAD v3: 3-184373016-AG-A
• gnomAD v4: 3-184373016-AG-A
• MyVariant Identifiers: chr3:g.184090805del (hg19) ; chr3:g.184373017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373018del , CM000665.2:g.184373018del	GRCh38
NC_000003.11:g.184090806del , CM000665.1:g.184090806del	GRCh37
NC_000003.10:g.185573500del	NCBI36
NG_012136.1:g.10128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.978del (THPO)	ENSP00000494281.2:p.Ser327LeufsTer2
ENST00000647395.1:c.558del (THPO) MANE Select	ENSP00000494504.1:p.Ser187LeufsTer2
ENST00000649095.1:c.978del (THPO)	ENSP00000497904.1:p.Ser327LeufsTer2
ENST00000650229.1:c.541del (THPO)	ENSP00000497233.1:p.Leu181SerfsTer?
ENST00000204615.11:c.558del (THPO)	ENSP00000204615.7:p.Ser187LeufsTer2
ENST00000421442.2:c.478-36del (THPO)	ENSP00000411704.2:n.478-36del
ENST00000444495.1:c.2106+228311del (EIF2B5)	ENSP00000409142.1:n.2106+228311del
ENST00000445696.6:c.546del (THPO)	ENSP00000410763.2:p.Ser183LeufsTer2
ENST00000477594.1:n.165-36del (THPO)
NM_000460.3:c.558del (THPO)	NP_000451.1:p.Ser187LeufsTer2
NM_001177597.2:c.546del (THPO)	NP_001171068.1:p.Ser183LeufsTer2
NM_001177598.2:c.541del (THPO)	NP_001171069.1:p.Leu181SerfsTer?
NM_001289997.1:c.478-36del (THPO)	NP_001276926.1:n.478-36del
NM_001289998.1:c.558del (THPO)	NP_001276927.1:p.Ser187LeufsTer2
NM_001290003.1:c.978del (THPO)	NP_001276932.1:p.Ser327LeufsTer2
NM_001290022.1:c.546del (THPO)	NP_001276951.1:p.Ser183LeufsTer2
NM_001290026.1:c.541del (THPO)	NP_001276955.1:p.Leu181SerfsTer?
NM_001290027.1:c.478-36del (THPO)	NP_001276956.1:n.478-36del
NM_001290028.1:c.558del (THPO)	NP_001276957.1:p.Ser187LeufsTer2
XM_011513113.1:c.886-36del (THPO)	XP_011511415.1:n.886-36del
NM_000460.4:c.558del (THPO) MANE Select	NP_000451.1:p.Ser187LeufsTer2
XM_017007107.1:c.886-36del (THPO)	XP_016862596.1:n.886-36del