Canonical Allele Identifier: CA2147069804

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74492987_74492988delinsAG , CM000676.2:g.74492987_74492988delinsAG	GRCh38
NC_000014.8:g.74959690_74959691delinsAG , CM000676.1:g.74959690_74959691delinsAG	GRCh37
NC_000014.7:g.74029443_74029444delinsAG	NCBI36
NG_007117.1:g.5394_5395delinsCT
NG_033074.1:g.4268_4269delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.82+205_82+206delinsCT MANE Select	ENSP00000451112.2:n.82+205_82+206delinsCT
ENST00000238633.6:c.82+205_82+206delinsCT	ENSP00000238633.2:n.82+205_82+206delinsCT
ENST00000434013.6:c.82+205_82+206delinsCT	ENSP00000412103.2:n.82+205_82+206delinsCT
ENST00000541064.5:c.82+205_82+206delinsCT	ENSP00000442488.1:n.82+205_82+206delinsCT
ENST00000553490.5:c.82+205_82+206delinsCT	ENSP00000451180.1:n.82+205_82+206delinsCT
ENST00000554482.1:c.50+205_50+206delinsCT	ENSP00000451314.1:n.50+205_50+206delinsCT
ENST00000555592.1:c.82+205_82+206delinsCT	ENSP00000450887.1:n.82+205_82+206delinsCT
ENST00000555619.5:c.82+205_82+206delinsCT	ENSP00000451112.1:n.82+205_82+206delinsCT
ENST00000556009.5:c.147+1043_147+1044delinsCT
ENST00000557510.5:c.82+205_82+206delinsCT	ENSP00000451206.1:n.82+205_82+206delinsCT
NM_006432.3:c.82+205_82+206delinsCT	NP_006423.1:n.82+205_82+206delinsCT
NM_001363688.1:c.82+205_82+206delinsCT	NP_001350617.1:n.82+205_82+206delinsCT
NM_006432.4:c.82+205_82+206delinsCT	NP_006423.1:n.82+205_82+206delinsCT
NM_001375440.1:c.82+205_82+206delinsCT	NP_001362369.1:n.82+205_82+206delinsCT
NM_006432.5:c.82+205_82+206delinsCT MANE Select	NP_006423.1:n.82+205_82+206delinsCT