Canonical Allele Identifier: CA2671248927

Gene: HPSE

Linked Data

• gnomAD v4: 4-83309465-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83309467del , CM000666.2:g.83309467del	GRCh38
NC_000004.11:g.84230620del , CM000666.1:g.84230620del	GRCh37
NC_000004.10:g.84449644del	NCBI36
NG_028037.1:g.30688del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311412.10:c.920del MANE Select	ENSP00000308107.5:p.Lys307ArgfsTer5
ENST00000681769.1:c.920del	ENSP00000506434.1:p.Lys307ArgfsTer5
ENST00000311412.9:c.920del	ENSP00000308107.5:p.Lys307ArgfsTer5
ENST00000405413.6:c.920del	ENSP00000384262.2:p.Lys307ArgfsTer5
ENST00000507150.5:c.*70del	ENSP00000426139.1:n.*70del
ENST00000508891.5:c.*70del	ENSP00000421827.1:n.*70del
ENST00000509906.5:c.920del	ENSP00000421038.1:p.Lys307ArgfsTer5
ENST00000512196.5:c.920del	ENSP00000423265.1:p.Lys307ArgfsTer5
ENST00000513463.1:c.746del	ENSP00000421365.1:p.Lys249ArgfsTer5
NM_001098540.2:c.920del	NP_001092010.1:p.Lys307ArgfsTer5
NM_001166498.2:c.920del	NP_001159970.1:p.Lys307ArgfsTer5
NM_001199830.1:c.746del	NP_001186759.1:p.Lys249ArgfsTer5
NM_006665.5:c.920del	NP_006656.2:p.Lys307ArgfsTer5
XR_938943.1:n.100-6981del
NM_001098540.3:c.920del MANE Select	NP_001092010.1:p.Lys307ArgfsTer5
NM_001166498.3:c.920del	NP_001159970.1:p.Lys307ArgfsTer5
NM_006665.6:c.920del	NP_006656.2:p.Lys307ArgfsTer5