Canonical Allele Identifier: CA2625666532

Gene: NPC2

Linked Data

• gnomAD v4: 14-74480637-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480638_74480639del , CM000676.2:g.74480638_74480639del	GRCh38
NC_000014.8:g.74947341_74947342del , CM000676.1:g.74947341_74947342del	GRCh37
NC_000014.7:g.74017094_74017095del	NCBI36
NG_007117.1:g.17743_17744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+63_441+64del MANE Select	ENSP00000451112.2:n.441+63_441+64del
ENST00000238633.6:c.432+72_432+73del	ENSP00000238633.2:n.432+72_432+73del
ENST00000434013.6:c.441+63_441+64del	ENSP00000412103.2:n.441+63_441+64del
ENST00000541064.5:c.364-351_364-350del	ENSP00000442488.1:n.364-351_364-350del
ENST00000553490.5:c.457+47_457+48del	ENSP00000451180.1:n.457+47_457+48del
ENST00000554482.1:c.236+63_236+64del	ENSP00000451314.1:n.236+63_236+64del
ENST00000555619.5:c.441+63_441+64del	ENSP00000451112.1:n.441+63_441+64del
ENST00000556009.5:c.506+63_506+64del
ENST00000557510.5:c.504_505del	ENSP00000451206.1:p.Glu169AsnfsTer2
NM_006432.3:c.441+63_441+64del	NP_006423.1:n.441+63_441+64del
NM_001363688.1:c.504_505del	NP_001350617.1:p.Glu169AsnfsTer2
NM_006432.4:c.441+63_441+64del	NP_006423.1:n.441+63_441+64del
NM_001375440.1:c.364-351_364-350del	NP_001362369.1:n.364-351_364-350del
NM_006432.5:c.441+63_441+64del MANE Select	NP_006423.1:n.441+63_441+64del