Canonical Allele Identifier: CA2575576690

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493449_74493450del , CM000676.2:g.74493449_74493450del	GRCh38
NC_000014.8:g.74960152_74960153del , CM000676.1:g.74960152_74960153del	GRCh37
NC_000014.7:g.74029905_74029906del	NCBI36
NG_007117.1:g.4935_4936del
NG_033074.1:g.4730_4731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-63-110_-63-109del	ENSP00000450887.1:n.-63-110_-63-109del
ENST00000555619.5:c.-173_-172del	ENSP00000451112.1:n.-173_-172del
ENST00000556009.5:c.147+584_147+585del
NM_001363688.1:c.-173_-172del	NP_001350617.1:n.-173_-172del
NM_006432.4:c.-173_-172del	NP_006423.1:n.-173_-172del