Canonical Allele Identifier: CA2575576598

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480623del , CM000676.2:g.74480623del	GRCh38
NC_000014.8:g.74947326del , CM000676.1:g.74947326del	GRCh37
NC_000014.7:g.74017079del	NCBI36
NG_007117.1:g.17760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+80del MANE Select	ENSP00000451112.2:n.441+80del
ENST00000238633.6:c.432+89del	ENSP00000238633.2:n.432+89del
ENST00000434013.6:c.441+80del	ENSP00000412103.2:n.441+80del
ENST00000541064.5:c.364-334del	ENSP00000442488.1:n.364-334del
ENST00000553490.5:c.457+64del	ENSP00000451180.1:n.457+64del
ENST00000554482.1:c.236+80del	ENSP00000451314.1:n.236+80del
ENST00000555619.5:c.441+80del	ENSP00000451112.1:n.441+80del
ENST00000556009.5:c.506+80del
ENST00000557510.5:c.521del	ENSP00000451206.1:p.Pro174HisfsTer?
NM_006432.3:c.441+80del	NP_006423.1:n.441+80del
NM_001363688.1:c.521del	NP_001350617.1:p.Pro174HisfsTer?
NM_006432.4:c.441+80del	NP_006423.1:n.441+80del
NM_001375440.1:c.364-334del	NP_001362369.1:n.364-334del
NM_006432.5:c.441+80del MANE Select	NP_006423.1:n.441+80del