Canonical Allele Identifier: CA2668836190

Gene: THPO EIF2B5

Linked Data

• gnomAD v4: 3-184375852-T-TAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184375853_184375854insAAAAA , CM000665.2:g.184375853_184375854insAAAAA	GRCh38
NC_000003.11:g.184093641_184093642insAAAAA , CM000665.1:g.184093641_184093642insAAAAA	GRCh37
NC_000003.10:g.185576335_185576336insAAAAA	NCBI36
NG_012136.1:g.7292_7293insTTTTT
NG_029559.1:g.781_782insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.561+35_561+36insTTTTT (THPO)	ENSP00000494281.2:n.561+35_561+36insTTTTT
ENST00000647395.1:c.141+35_141+36insTTTTT (THPO) MANE Select	ENSP00000494504.1:n.141+35_141+36insTTTTT
ENST00000649095.1:c.561+35_561+36insTTTTT (THPO)	ENSP00000497904.1:n.561+35_561+36insTTTTT
ENST00000650229.1:c.141+35_141+36insTTTTT (THPO)	ENSP00000497233.1:n.141+35_141+36insTTTTT
ENST00000204615.11:c.141+35_141+36insTTTTT (THPO)	ENSP00000204615.7:n.141+35_141+36insTTTTT
ENST00000421442.2:c.141+35_141+36insTTTTT (THPO)	ENSP00000411704.2:n.141+35_141+36insTTTTT
ENST00000444495.1:c.2106+231146_2106+231147insAAAAA (EIF2B5)	ENSP00000409142.1:n.2106+231146_2106+231147insAAAAA
ENST00000445696.6:c.141+35_141+36insTTTTT (THPO)	ENSP00000410763.2:n.141+35_141+36insTTTTT
NM_000460.3:c.141+35_141+36insTTTTT (THPO)	NP_000451.1:n.141+35_141+36insTTTTT
NM_001177597.2:c.141+35_141+36insTTTTT (THPO)	NP_001171068.1:n.141+35_141+36insTTTTT
NM_001177598.2:c.141+35_141+36insTTTTT (THPO)	NP_001171069.1:n.141+35_141+36insTTTTT
NM_001289997.1:c.141+35_141+36insTTTTT (THPO)	NP_001276926.1:n.141+35_141+36insTTTTT
NM_001289998.1:c.141+35_141+36insTTTTT (THPO)	NP_001276927.1:n.141+35_141+36insTTTTT
NM_001290003.1:c.561+35_561+36insTTTTT (THPO)	NP_001276932.1:n.561+35_561+36insTTTTT
NM_001290022.1:c.141+35_141+36insTTTTT (THPO)	NP_001276951.1:n.141+35_141+36insTTTTT
NM_001290026.1:c.141+35_141+36insTTTTT (THPO)	NP_001276955.1:n.141+35_141+36insTTTTT
NM_001290027.1:c.141+35_141+36insTTTTT (THPO)	NP_001276956.1:n.141+35_141+36insTTTTT
NM_001290028.1:c.141+35_141+36insTTTTT (THPO)	NP_001276957.1:n.141+35_141+36insTTTTT
XM_011513113.1:c.561+35_561+36insTTTTT (THPO)	XP_011511415.1:n.561+35_561+36insTTTTT
NM_000460.4:c.141+35_141+36insTTTTT (THPO) MANE Select	NP_000451.1:n.141+35_141+36insTTTTT
XM_017007107.1:c.561+35_561+36insTTTTT (THPO)	XP_016862596.1:n.561+35_561+36insTTTTT