Canonical Allele Identifier: CA2290168435

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545145_23545146delinsTA , CM000680.2:g.23545145_23545146delinsTA	GRCh38
NC_000018.9:g.21125109_21125110delinsTA , CM000680.1:g.21125109_21125110delinsTA	GRCh37
NC_000018.8:g.19379107_19379108delinsTA	NCBI36
NG_012795.1:g.46472_46473delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1761_1762delinsTA MANE Select	ENSP00000269228.4:p.Phe587=
ENST00000269228.9:c.1761_1762delinsTA	ENSP00000269228.4:p.Phe587=
ENST00000540608.5:n.1675_1676delinsTA
ENST00000591051.1:c.839_840delinsTA
NM_000271.4:c.1761_1762delinsTA	NP_000262.2:p.Phe587=
XM_005258277.1:c.1812_1813delinsTA	XP_005258334.1:p.Phe604=
XM_005258278.3:c.1812_1813delinsTA	XP_005258335.1:p.Phe604=
XM_005258279.1:c.1761_1762delinsTA	XP_005258336.1:p.Phe587=
XM_006722479.2:c.1812_1813delinsTA	XP_006722542.1:p.Phe604=
XM_011526015.1:c.1347_1348delinsTA	XP_011524317.1:p.Phe449=
XM_005258278.5:c.1812_1813delinsTA	XP_005258335.1:p.Phe604=
XM_005258279.2:c.1761_1762delinsTA	XP_005258336.1:p.Phe587=
XM_006722479.3:c.1812_1813delinsTA	XP_006722542.1:p.Phe604=
XM_017025784.1:c.1812_1813delinsTA	XP_016881273.1:p.Phe604=
XM_017025785.1:c.1812_1813delinsTA	XP_016881274.1:p.Phe604=
XM_017025786.1:c.1761_1762delinsTA	XP_016881275.1:p.Phe587=
XM_017025787.1:c.1761_1762delinsTA	XP_016881276.1:p.Phe587=
NM_000271.5:c.1761_1762delinsTA MANE Select	NP_000262.2:p.Phe587=