Canonical Allele Identifier: CA2625667138

Gene: NPC2

Linked Data

• gnomAD v4: 14-74484296-TTCTTCTTCATCATAGAGATAAGGGGCCCTTTACCCCCATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484300_74484339del , CM000676.2:g.74484300_74484339del	GRCh38
NC_000014.8:g.74951003_74951042del , CM000676.1:g.74951003_74951042del	GRCh37
NC_000014.7:g.74020756_74020795del	NCBI36
NG_007117.1:g.14046_14085del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.363+79_363+118del MANE Select	ENSP00000451112.2:n.363+79_363+118del
ENST00000238633.6:c.363+79_363+118del	ENSP00000238633.2:n.363+79_363+118del
ENST00000434013.6:c.363+79_363+118del	ENSP00000412103.2:n.363+79_363+118del
ENST00000541064.5:c.363+79_363+118del	ENSP00000442488.1:n.363+79_363+118del
ENST00000553490.5:c.363+79_363+118del	ENSP00000451180.1:n.363+79_363+118del
ENST00000554482.1:c.158+1993_158+2032del	ENSP00000451314.1:n.158+1993_158+2032del
ENST00000555619.5:c.363+79_363+118del	ENSP00000451112.1:n.363+79_363+118del
ENST00000556009.5:c.428+79_428+118del
ENST00000557510.5:c.363+79_363+118del	ENSP00000451206.1:n.363+79_363+118del
NM_006432.3:c.363+79_363+118del	NP_006423.1:n.363+79_363+118del
NM_001363688.1:c.363+79_363+118del	NP_001350617.1:n.363+79_363+118del
NM_006432.4:c.363+79_363+118del	NP_006423.1:n.363+79_363+118del
NM_001375440.1:c.363+79_363+118del	NP_001362369.1:n.363+79_363+118del
NM_006432.5:c.363+79_363+118del MANE Select	NP_006423.1:n.363+79_363+118del