Canonical Allele Identifier: CA903708436

Gene: THPO EIF2B5

Linked Data

• ClinVar Variation Id: 2891035
• ClinVar RCV Id: RCV003722761
• dbSNP Id: rs1490246291
• gnomAD v4: 3-184372955-A-AAGT
• MyVariant Identifiers: chr3:g.184090743_184090744insAGT (hg19) ; chr3:g.184372955_184372956insAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372956_184372958dup , CM000665.2:g.184372956_184372958dup	GRCh38
NC_000003.11:g.184090744_184090746dup , CM000665.1:g.184090744_184090746dup	GRCh37
NC_000003.10:g.185573438_185573440dup	NCBI36
NG_012136.1:g.10187_10189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1037_1039dup (THPO)	ENSP00000494281.2:p.Asn346_Phe347insTyr
ENST00000647395.1:c.617_619dup (THPO) MANE Select	ENSP00000494504.1:p.Asn206_Phe207insTyr
ENST00000649095.1:c.1037_1039dup (THPO)	ENSP00000497904.1:p.Asn346_Phe347insTyr
ENST00000650229.1:c.600_602dup (THPO)	ENSP00000497233.1:p.Leu201_His202insLeu
ENST00000204615.11:c.617_619dup (THPO)	ENSP00000204615.7:p.Asn206_Phe207insTyr
ENST00000421442.2:c.501_503dup (THPO)	ENSP00000411704.2:p.Leu168_His169insLeu
ENST00000444495.1:c.2106+228249_2106+228251dup (EIF2B5)	ENSP00000409142.1:n.2106+228249_2106+228251dup
ENST00000445696.6:c.605_607dup (THPO)	ENSP00000410763.2:p.Asn202_Phe203insTyr
ENST00000477594.1:n.188_190dup (THPO)
NM_000460.3:c.617_619dup (THPO)	NP_000451.1:p.Asn206_Phe207insTyr
NM_001177597.2:c.605_607dup (THPO)	NP_001171068.1:p.Asn202_Phe203insTyr
NM_001177598.2:c.600_602dup (THPO)	NP_001171069.1:p.Leu201_His202insLeu
NM_001289997.1:c.501_503dup (THPO)	NP_001276926.1:p.Leu168_His169insLeu
NM_001289998.1:c.617_619dup (THPO)	NP_001276927.1:p.Asn206_Phe207insTyr
NM_001290003.1:c.1037_1039dup (THPO)	NP_001276932.1:p.Asn346_Phe347insTyr
NM_001290022.1:c.605_607dup (THPO)	NP_001276951.1:p.Asn202_Phe203insTyr
NM_001290026.1:c.600_602dup (THPO)	NP_001276955.1:p.Leu201_His202insLeu
NM_001290027.1:c.501_503dup (THPO)	NP_001276956.1:p.Leu168_His169insLeu
NM_001290028.1:c.617_619dup (THPO)	NP_001276957.1:p.Asn206_Phe207insTyr
XM_011513113.1:c.909_911dup (THPO)	XP_011511415.1:p.Leu304_His305insLeu
NM_000460.4:c.617_619dup (THPO) MANE Select	NP_000451.1:p.Asn206_Phe207insTyr
XM_017007107.1:c.909_911dup (THPO)	XP_016862596.1:p.Leu304_His305insLeu