Canonical Allele Identifier: CA658824994

Gene: PMFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72126129del , CM000678.2:g.72126129del	GRCh38
NC_000016.9:g.72160028del , CM000678.1:g.72160028del	GRCh37
NC_000016.8:g.70717529del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_031293.3:c.2092del MANE Select	NP_112583.2:p.Ala698ProfsTer7
ENST00000237353.15:c.2092del MANE Select	ENSP00000237353.10:p.Ala698ProfsTer7
NM_001160213.1:c.1657del	NP_001153685.1:p.Ala553ProfsTer7
NM_001160213.2:c.1657del	NP_001153685.1:p.Ala553ProfsTer7
NM_031293.2:c.2092del	NP_112583.2:p.Ala698ProfsTer7
ENST00000237353.14:c.2092del	ENSP00000237353.10:p.Ala698ProfsTer7
ENST00000355636.10:c.1657del	ENSP00000347854.6:p.Ala553ProfsTer7
ENST00000379073.9:c.*1902del	ENSP00000368364.5:n.*1902del
ENST00000537392.1:c.1694del	ENSP00000439564.1:n.1694del
ENST00000537465.5:c.2107del	ENSP00000443817.1:p.Ala703ProfsTer7
XM_011523356.1:c.2107del	XP_011521658.1:p.Ala703ProfsTer7
XM_011523357.1:c.2107del	XP_011521659.1:p.Ala703ProfsTer7
XM_011523357.3:c.2107del	XP_011521659.1:p.Ala703ProfsTer7
XM_011523358.1:c.2107del	XP_011521660.1:p.Ala703ProfsTer7
XM_011523358.3:c.2107del	XP_011521660.1:p.Ala703ProfsTer7
XM_011523359.1:c.2107del	XP_011521661.1:p.Ala703ProfsTer7
XM_011523360.1:c.2107del	XP_011521662.1:p.Ala703ProfsTer7
XM_011523360.3:c.2107del	XP_011521662.1:p.Ala703ProfsTer7
XM_011523361.1:c.2107del	XP_011521663.1:p.Ala703ProfsTer7
XM_011523361.3:c.2107del	XP_011521663.1:p.Ala703ProfsTer7
XM_011523362.1:c.2098del	XP_011521664.1:p.Ala700ProfsTer7
XM_011523362.3:c.2098del	XP_011521664.1:p.Ala700ProfsTer7
XM_011523363.1:c.2092del	XP_011521665.1:p.Ala698ProfsTer7
XM_011523364.1:c.2107del	XP_011521666.1:p.Ala703ProfsTer7
XM_011523365.1:c.2092del	XP_011521667.1:p.Ala698ProfsTer7
XM_011523366.1:c.2107del	XP_011521668.1:p.Ala703ProfsTer7
XM_011523367.1:c.2107del	XP_011521669.1:p.Ala703ProfsTer7
XM_011523368.1:c.1885del	XP_011521670.1:p.Ala629ProfsTer7
XR_933453.1:n.2432del