Canonical Allele Identifier: CA2290176163

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23561378_23561379delinsTG , CM000680.2:g.23561378_23561379delinsTG	GRCh38
NC_000018.9:g.21141342_21141343delinsTG , CM000680.1:g.21141342_21141343delinsTG	GRCh37
NC_000018.8:g.19395340_19395341delinsTG	NCBI36
NG_012795.1:g.30239_30240delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.612_613delinsCA MANE Select	ENSP00000269228.4:p.Thr204=
ENST00000269228.9:c.612_613delinsCA	ENSP00000269228.4:p.Thr204=
ENST00000540608.5:n.526_527delinsCA
NM_000271.4:c.612_613delinsCA	NP_000262.2:p.Thr204=
XM_005258277.1:c.612_613delinsCA	XP_005258334.1:p.Thr204=
XM_005258278.3:c.612_613delinsCA	XP_005258335.1:p.Thr204=
XM_005258279.1:c.612_613delinsCA	XP_005258336.1:p.Thr204=
XM_006722479.2:c.612_613delinsCA	XP_006722542.1:p.Thr204=
XM_011526015.1:c.147_148delinsCA	XP_011524317.1:p.Thr49=
XM_005258278.5:c.612_613delinsCA	XP_005258335.1:p.Thr204=
XM_005258279.2:c.612_613delinsCA	XP_005258336.1:p.Thr204=
XM_006722479.3:c.612_613delinsCA	XP_006722542.1:p.Thr204=
XM_017025784.1:c.612_613delinsCA	XP_016881273.1:p.Thr204=
XM_017025785.1:c.612_613delinsCA	XP_016881274.1:p.Thr204=
XM_017025786.1:c.612_613delinsCA	XP_016881275.1:p.Thr204=
XM_017025787.1:c.612_613delinsCA	XP_016881276.1:p.Thr204=
NM_000271.5:c.612_613delinsCA MANE Select	NP_000262.2:p.Thr204=