Canonical Allele Identifier: CA2290176154

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23561361_23561362delinsTG , CM000680.2:g.23561361_23561362delinsTG	GRCh38
NC_000018.9:g.21141325_21141326delinsTG , CM000680.1:g.21141325_21141326delinsTG	GRCh37
NC_000018.8:g.19395323_19395324delinsTG	NCBI36
NG_012795.1:g.30256_30257delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.629_630delinsCA MANE Select	ENSP00000269228.4:p.Ser210=
ENST00000269228.9:c.629_630delinsCA	ENSP00000269228.4:p.Ser210=
ENST00000540608.5:n.543_544delinsCA
NM_000271.4:c.629_630delinsCA	NP_000262.2:p.Ser210=
XM_005258277.1:c.629_630delinsCA	XP_005258334.1:p.Ser210=
XM_005258278.3:c.629_630delinsCA	XP_005258335.1:p.Ser210=
XM_005258279.1:c.629_630delinsCA	XP_005258336.1:p.Ser210=
XM_006722479.2:c.629_630delinsCA	XP_006722542.1:p.Ser210=
XM_011526015.1:c.164_165delinsCA	XP_011524317.1:p.Ser55=
XM_005258278.5:c.629_630delinsCA	XP_005258335.1:p.Ser210=
XM_005258279.2:c.629_630delinsCA	XP_005258336.1:p.Ser210=
XM_006722479.3:c.629_630delinsCA	XP_006722542.1:p.Ser210=
XM_017025784.1:c.629_630delinsCA	XP_016881273.1:p.Ser210=
XM_017025785.1:c.629_630delinsCA	XP_016881274.1:p.Ser210=
XM_017025786.1:c.629_630delinsCA	XP_016881275.1:p.Ser210=
XM_017025787.1:c.629_630delinsCA	XP_016881276.1:p.Ser210=
NM_000271.5:c.629_630delinsCA MANE Select	NP_000262.2:p.Ser210=