Canonical Allele Identifier: CA2578131857

Gene: HPSE

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83309470del , CM000666.2:g.83309470del	GRCh38
NC_000004.11:g.84230623del , CM000666.1:g.84230623del	GRCh37
NC_000004.10:g.84449647del	NCBI36
NG_028037.1:g.30684del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311412.10:c.916del MANE Select	ENSP00000308107.5:p.Thr306ProfsTer6
ENST00000681769.1:c.916del	ENSP00000506434.1:p.Thr306ProfsTer6
ENST00000311412.9:c.916del	ENSP00000308107.5:p.Thr306ProfsTer6
ENST00000405413.6:c.916del	ENSP00000384262.2:p.Thr306ProfsTer6
ENST00000507150.5:c.*66del	ENSP00000426139.1:n.*66del
ENST00000508891.5:c.*66del	ENSP00000421827.1:n.*66del
ENST00000509906.5:c.916del	ENSP00000421038.1:p.Thr306ProfsTer6
ENST00000512196.5:c.916del	ENSP00000423265.1:p.Thr306ProfsTer6
ENST00000513463.1:c.742del	ENSP00000421365.1:p.Thr248ProfsTer6
NM_001098540.2:c.916del	NP_001092010.1:p.Thr306ProfsTer6
NM_001166498.2:c.916del	NP_001159970.1:p.Thr306ProfsTer6
NM_001199830.1:c.742del	NP_001186759.1:p.Thr248ProfsTer6
NM_006665.5:c.916del	NP_006656.2:p.Thr306ProfsTer6
XR_938943.1:n.100-6978del
NM_001098540.3:c.916del MANE Select	NP_001092010.1:p.Thr306ProfsTer6
NM_001166498.3:c.916del	NP_001159970.1:p.Thr306ProfsTer6
NM_006665.6:c.916del	NP_006656.2:p.Thr306ProfsTer6