Canonical Allele Identifier: CA2625667217

Gene: NPC2

Linked Data

• gnomAD v4: 14-74493298-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493301del , CM000676.2:g.74493301del	GRCh38
NC_000014.8:g.74960004del , CM000676.1:g.74960004del	GRCh37
NC_000014.7:g.74029757del	NCBI36
NG_007117.1:g.5083del
NG_033074.1:g.4582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.-25del MANE Select	ENSP00000451112.2:n.-25del
ENST00000434013.6:c.-25del	ENSP00000412103.2:n.-25del
ENST00000553490.5:c.-25del	ENSP00000451180.1:n.-25del
ENST00000555592.1:c.-25del	ENSP00000450887.1:n.-25del
ENST00000555619.5:c.-25del	ENSP00000451112.1:n.-25del
ENST00000556009.5:c.147+732del
ENST00000557510.5:c.-25del	ENSP00000451206.1:n.-25del
NM_006432.3:c.-25del	NP_006423.1:n.-25del
NM_001363688.1:c.-25del	NP_001350617.1:n.-25del
NM_006432.4:c.-25del	NP_006423.1:n.-25del
NM_001375440.1:c.-25del	NP_001362369.1:n.-25del
NM_006432.5:c.-25del MANE Select	NP_006423.1:n.-25del