Canonical Allele Identifier: CA1057326116

Gene: LIPH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185534816_185534905dup , CM000665.2:g.185534816_185534905dup	GRCh38
NC_000003.11:g.185252604_185252693dup , CM000665.1:g.185252604_185252693dup	GRCh37
NC_000003.10:g.186735298_186735387dup	NCBI36
NG_012183.1:g.22680_22769dup

Transcript Alleles

HGVS	Amino-acid Change
NM_139248.3:c.280_369dup MANE Select	NP_640341.1:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValV...
ENST00000296252.9:c.280_369dup MANE Select	ENSP00000296252.4:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetA...
NM_139248.2:c.280_369dup	NP_640341.1:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValV...
ENST00000296252.8:c.280_369dup	ENSP00000296252.4:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetA...
ENST00000424591.6:c.280_369dup	ENSP00000396384.2:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetA...
ENST00000429510.1:c.*232_*321dup	ENSP00000414311.1:n.*232_*321dup
XM_006713529.2:c.280_369dup	XP_006713592.1:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnV...
XM_006713529.4:c.280_369dup	XP_006713592.1:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnV...
XM_011512530.1:c.151_240dup	XP_011510832.1:p.Lys80_Thr81insGlyLeuLeuSerValGluAspMetAsnVal...
XM_011512530.3:c.151_240dup	XP_011510832.1:p.Lys80_Thr81insGlyLeuLeuSerValGluAspMetAsnVal...
XM_011512531.1:c.151_240dup	XP_011510833.1:p.Lys80_Thr81insGlyLeuLeuSerValGluAspMetAsnVal...
XM_011512531.3:c.151_240dup	XP_011510833.1:p.Lys80_Thr81insGlyLeuLeuSerValGluAspMetAsnVal...
XM_017005852.2:c.280_369dup	XP_016861341.1:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnV...