Canonical Allele Identifier: CA2580094762

Gene: EIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7311043_7311044del , CM000679.2:g.7311043_7311044del	GRCh38
NC_000017.10:g.7214362_7214363del , CM000679.1:g.7214362_7214363del	GRCh37
NC_000017.9:g.7155086_7155087del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001970.5:c.191_192del MANE Select	NP_001961.1:p.Phe64TyrfsTer6
ENST00000336458.13:c.191_192del MANE Select	ENSP00000336776.8:p.Phe64TyrfsTer6
NM_001143760.1:c.281_282del	NP_001137232.1:p.Phe94TyrfsTer6
NM_001143761.1:c.191_192del	NP_001137233.1:p.Phe64TyrfsTer6
NM_001143762.1:c.191_192del	NP_001137234.1:p.Phe64TyrfsTer6
NM_001143762.2:c.191_192del	NP_001137234.1:p.Phe64TyrfsTer6
NM_001370420.1:c.191_192del	NP_001357349.1:p.Phe64TyrfsTer6
NM_001370421.1:c.191_192del	NP_001357350.1:p.Phe64TyrfsTer6
NM_001970.4:c.191_192del	NP_001961.1:p.Phe64TyrfsTer6
ENST00000336452.11:c.281_282del	ENSP00000336702.7:p.Phe94TyrfsTer6
ENST00000336458.12:c.191_192del	ENSP00000336776.8:p.Phe64TyrfsTer6
ENST00000416016.2:c.191_192del	ENSP00000396073.2:p.Phe64TyrfsTer6
ENST00000419711.6:c.191_192del	ENSP00000390677.2:p.Phe64TyrfsTer6
ENST00000571955.5:c.191_192del	ENSP00000458269.1:p.Phe64TyrfsTer6
ENST00000572815.5:c.191_192del	ENSP00000461688.1:p.Phe64TyrfsTer6
ENST00000573542.5:c.191_192del	ENSP00000459611.1:p.Phe64TyrfsTer6
ENST00000573714.5:c.191_192del	ENSP00000460284.1:p.Phe64TyrfsTer6
ENST00000576930.5:c.191_192del	ENSP00000459196.1:p.Phe64TyrfsTer6
XM_005256509.1:c.191_192del	XP_005256566.1:p.Phe64TyrfsTer6
XM_005256509.2:c.191_192del	XP_005256566.1:p.Phe64TyrfsTer6
XM_024450630.1:c.281_282del	XP_024306398.1:p.Phe94TyrfsTer6
XM_024450631.1:c.191_192del	XP_024306399.1:p.Phe64TyrfsTer6
XM_024450632.1:c.191_192del	XP_024306400.1:p.Phe64TyrfsTer6
XM_024450633.1:c.191_192del	XP_024306401.1:p.Phe64TyrfsTer6
XR_002957981.1:n.1624_1625del