Canonical Allele Identifier: CA2290163267

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534388_23534391delinsTGAG , CM000680.2:g.23534388_23534391delinsTGAG	GRCh38
NC_000018.9:g.21114352_21114355delinsTGAG , CM000680.1:g.21114352_21114355delinsTGAG	GRCh37
NC_000018.8:g.19368350_19368353delinsTGAG	NCBI36
NG_012795.1:g.57227_57230delinsCTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3591+55_3591+58delinsCTCA MANE Select	ENSP00000269228.4:n.3591+55_3591+58delins...
ENST00000269228.9:c.3591+55_3591+58delinsCTCA	ENSP00000269228.4:n.3591+55_3591+58delins...
ENST00000586150.5:c.346+55_346+58delinsCTCA
ENST00000587163.1:n.115+55_115+58delinsCTCA
ENST00000588867.1:n.401_404delinsCTCA
ENST00000591051.1:c.2669+55_2669+58delinsCTCA
ENST00000591107.6:c.268+55_268+58delinsCTCA
NM_000271.4:c.3591+55_3591+58delinsCTCA	NP_000262.2:n.3591+55_3591+58delinsCTCA
XM_005258277.1:c.3642+55_3642+58delinsCTCA	XP_005258334.1:n.3642+55_3642+58delinsCTC...
XM_005258278.3:c.3642+55_3642+58delinsCTCA	XP_005258335.1:n.3642+55_3642+58delinsCTC...
XM_005258279.1:c.3591+55_3591+58delinsCTCA	XP_005258336.1:n.3591+55_3591+58delinsCTC...
XM_006722479.2:c.3642+55_3642+58delinsCTCA	XP_006722542.1:n.3642+55_3642+58delinsCTC...
XM_011526015.1:c.3177+55_3177+58delinsCTCA	XP_011524317.1:n.3177+55_3177+58delinsCTC...
XM_005258278.5:c.3642+55_3642+58delinsCTCA	XP_005258335.1:n.3642+55_3642+58delinsCTC...
XM_005258279.2:c.3591+55_3591+58delinsCTCA	XP_005258336.1:n.3591+55_3591+58delinsCTC...
XM_006722479.3:c.3642+55_3642+58delinsCTCA	XP_006722542.1:n.3642+55_3642+58delinsCTC...
XM_017025784.1:c.3642+55_3642+58delinsCTCA	XP_016881273.1:n.3642+55_3642+58delinsCTC...
XM_017025785.1:c.3642+55_3642+58delinsCTCA	XP_016881274.1:n.3642+55_3642+58delinsCTC...
XM_017025786.1:c.3591+55_3591+58delinsCTCA	XP_016881275.1:n.3591+55_3591+58delinsCTC...
XM_017025787.1:c.3591+55_3591+58delinsCTCA	XP_016881276.1:n.3591+55_3591+58delinsCTC...
NM_000271.5:c.3591+55_3591+58delinsCTCA MANE Select	NP_000262.2:n.3591+55_3591+58delinsCTCA