Canonical Allele Identifier: CA2147059430

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480720_74480723delinsCCAG , CM000676.2:g.74480720_74480723delinsCCAG	GRCh38
NC_000014.8:g.74947423_74947426delinsCCAG , CM000676.1:g.74947423_74947426delinsCCAG	GRCh37
NC_000014.7:g.74017176_74017179delinsCCAG	NCBI36
NG_007117.1:g.17659_17662delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.420_423delinsCTGG MANE Select	ENSP00000451112.2:p.Cys140=
ENST00000238633.6:c.420_423delinsCTGG	ENSP00000238633.2:p.Cys140=
ENST00000434013.6:c.420_423delinsCTGG	ENSP00000412103.2:p.Cys140=
ENST00000541064.5:c.364-435_364-432delinsCTGG	ENSP00000442488.1:n.364-435_364-432delinsCTGG
ENST00000553490.5:c.420_423delinsCTGG	ENSP00000451180.1:p.Cys140=
ENST00000554482.1:c.215_218delinsCTGG	ENSP00000451314.1:n.215_218delinsCTGG
ENST00000555619.5:c.420_423delinsCTGG	ENSP00000451112.1:p.Cys140=
ENST00000556009.5:c.485_488delinsCTGG
ENST00000557510.5:c.420_423delinsCTGG	ENSP00000451206.1:p.Cys140=
NM_006432.3:c.420_423delinsCTGG	NP_006423.1:p.Cys140=
NM_001363688.1:c.420_423delinsCTGG	NP_001350617.1:p.Cys140=
NM_006432.4:c.420_423delinsCTGG	NP_006423.1:p.Cys140=
NM_001375440.1:c.364-435_364-432delinsCTGG	NP_001362369.1:n.364-435_364-432delinsCTGG
NM_006432.5:c.420_423delinsCTGG MANE Select	NP_006423.1:p.Cys140=