Canonical Allele Identifier: CA2147069947

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493256_74493263delinsTAGCTGCC , CM000676.2:g.74493256_74493263delinsTAGCTGCC	GRCh38
NC_000014.8:g.74959959_74959966delinsTAGCTGCC , CM000676.1:g.74959959_74959966delinsTAGCTGCC	GRCh37
NC_000014.7:g.74029712_74029719delinsTAGCTGCC	NCBI36
NG_007117.1:g.5119_5126delinsGGCAGCTA
NG_033074.1:g.4537_4544delinsTAGCTGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.12_19delinsGGCAGCTA MANE Select	ENSP00000451112.2:p.Leu4=
ENST00000238633.6:c.12_19delinsGGCAGCTA	ENSP00000238633.2:p.Leu4=
ENST00000434013.6:c.12_19delinsGGCAGCTA	ENSP00000412103.2:p.Leu4=
ENST00000541064.5:c.12_19delinsGGCAGCTA	ENSP00000442488.1:p.Leu4=
ENST00000553490.5:c.12_19delinsGGCAGCTA	ENSP00000451180.1:p.Leu4=
ENST00000555592.1:c.12_19delinsGGCAGCTA	ENSP00000450887.1:p.Leu4=
ENST00000555619.5:c.12_19delinsGGCAGCTA	ENSP00000451112.1:p.Leu4=
ENST00000556009.5:c.147+768_147+775delinsGGCAGCTA
ENST00000557510.5:c.12_19delinsGGCAGCTA	ENSP00000451206.1:p.Leu4=
NM_006432.3:c.12_19delinsGGCAGCTA	NP_006423.1:p.Leu4=
NM_001363688.1:c.12_19delinsGGCAGCTA	NP_001350617.1:p.Leu4=
NM_006432.4:c.12_19delinsGGCAGCTA	NP_006423.1:p.Leu4=
NM_001375440.1:c.12_19delinsGGCAGCTA	NP_001362369.1:p.Leu4=
NM_006432.5:c.12_19delinsGGCAGCTA MANE Select	NP_006423.1:p.Leu4=