Canonical Allele Identifier: CA964735196

Gene: NPC2

Linked Data

• dbSNP Id: rs2086645411
• gnomAD v3: 14-74480568-CT-C
• gnomAD v4: 14-74480568-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480572del , CM000676.2:g.74480572del	GRCh38
NC_000014.8:g.74947275del , CM000676.1:g.74947275del	GRCh37
NC_000014.7:g.74017028del	NCBI36
NG_007117.1:g.17813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+133del MANE Select	ENSP00000451112.2:n.441+133del
ENST00000238633.6:c.432+142del	ENSP00000238633.2:n.432+142del
ENST00000434013.6:c.441+133del	ENSP00000412103.2:n.441+133del
ENST00000541064.5:c.364-281del	ENSP00000442488.1:n.364-281del
ENST00000553490.5:c.457+117del	ENSP00000451180.1:n.457+117del
ENST00000554482.1:c.236+133del	ENSP00000451314.1:n.236+133del
ENST00000555619.5:c.441+133del	ENSP00000451112.1:n.441+133del
ENST00000556009.5:c.506+133del
ENST00000557510.5:c.*49del	ENSP00000451206.1:n.*49del
NM_006432.3:c.441+133del	NP_006423.1:n.441+133del
NM_001363688.1:c.*49del	NP_001350617.1:n.*49del
NM_006432.4:c.441+133del	NP_006423.1:n.441+133del
NM_001375440.1:c.364-281del	NP_001362369.1:n.364-281del
NM_006432.5:c.441+133del MANE Select	NP_006423.1:n.441+133del