Canonical Allele Identifier: CA2735016

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs774725343
• ExAC: 3:184093259 AAGAC / A
• gnomAD v2: 3-184093259-AAGAC-A
• gnomAD v4: 3-184375471-AAGAC-A
• MyVariant Identifiers: chr3:g.184093260_184093263del (hg19) ; chr3:g.184375472_184375475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184375474_184375477del , CM000665.2:g.184375474_184375477del	GRCh38
NC_000003.11:g.184093262_184093265del , CM000665.1:g.184093262_184093265del	GRCh37
NC_000003.10:g.185575956_185575959del	NCBI36
NG_012136.1:g.7670_7673del
NG_029559.1:g.402_405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000645603.2:c.648+40_648+43del (THPO)	ENSP00000494281.2:n.648+40_648+43del
ENST00000647395.1:c.228+40_228+43del (THPO) MANE Select	ENSP00000494504.1:n.228+40_228+43del
ENST00000649095.1:c.648+40_648+43del (THPO)	ENSP00000497904.1:n.648+40_648+43del
ENST00000650229.1:c.228+40_228+43del (THPO)	ENSP00000497233.1:n.228+40_228+43del
ENST00000204615.11:c.228+40_228+43del (THPO)	ENSP00000204615.7:n.228+40_228+43del
ENST00000421442.2:c.228+40_228+43del (THPO)	ENSP00000411704.2:n.228+40_228+43del
ENST00000444495.1:c.2106+230767_2106+230770del (EIF2B5)	ENSP00000409142.1:n.2106+230767_2106+2307...
ENST00000445696.6:c.228+40_228+43del (THPO)	ENSP00000410763.2:n.228+40_228+43del
NM_000460.3:c.228+40_228+43del (THPO)	NP_000451.1:n.228+40_228+43del
NM_001177597.2:c.228+40_228+43del (THPO)	NP_001171068.1:n.228+40_228+43del
NM_001177598.2:c.228+40_228+43del (THPO)	NP_001171069.1:n.228+40_228+43del
NM_001289997.1:c.228+40_228+43del (THPO)	NP_001276926.1:n.228+40_228+43del
NM_001289998.1:c.228+40_228+43del (THPO)	NP_001276927.1:n.228+40_228+43del
NM_001290003.1:c.648+40_648+43del (THPO)	NP_001276932.1:n.648+40_648+43del
NM_001290022.1:c.228+40_228+43del (THPO)	NP_001276951.1:n.228+40_228+43del
NM_001290026.1:c.228+40_228+43del (THPO)	NP_001276955.1:n.228+40_228+43del
NM_001290027.1:c.228+40_228+43del (THPO)	NP_001276956.1:n.228+40_228+43del
NM_001290028.1:c.228+40_228+43del (THPO)	NP_001276957.1:n.228+40_228+43del
XM_011513113.1:c.648+40_648+43del (THPO)	XP_011511415.1:n.648+40_648+43del
NM_000460.4:c.228+40_228+43del (THPO) MANE Select	NP_000451.1:n.228+40_228+43del
XM_017007107.1:c.648+40_648+43del (THPO)	XP_016862596.1:n.648+40_648+43del