Canonical Allele Identifier: CA220560

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23543504dup , CM000680.2:g.23543504dup	GRCh38
NC_000018.9:g.21123468dup , CM000680.1:g.21123468dup	GRCh37
NC_000018.8:g.19377466dup	NCBI36
NG_012795.1:g.48114dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.2196dup MANE Select	NP_000262.2:p.Pro733SerfsTer10
ENST00000269228.10:c.2196dup MANE Select	ENSP00000269228.4:p.Pro733SerfsTer10
NM_000271.4:c.2196dup	NP_000262.2:p.Pro733SerfsTer10
ENST00000269228.9:c.2196dup	ENSP00000269228.4:p.Pro733SerfsTer10
ENST00000540608.5:n.2110dup
ENST00000591051.1:c.1274dup
XM_005258277.1:c.2247dup	XP_005258334.1:p.Pro750SerfsTer10
XM_005258278.3:c.2247dup	XP_005258335.1:p.Pro750SerfsTer10
XM_005258278.5:c.2247dup	XP_005258335.1:p.Pro750SerfsTer10
XM_005258279.1:c.2196dup	XP_005258336.1:p.Pro733SerfsTer10
XM_005258279.2:c.2196dup	XP_005258336.1:p.Pro733SerfsTer10
XM_006722479.2:c.2247dup	XP_006722542.1:p.Pro750SerfsTer10
XM_006722479.3:c.2247dup	XP_006722542.1:p.Pro750SerfsTer10
XM_011526015.1:c.1782dup	XP_011524317.1:p.Pro595SerfsTer10
XM_017025784.1:c.2247dup	XP_016881273.1:p.Pro750SerfsTer10
XM_017025785.1:c.2247dup	XP_016881274.1:p.Pro750SerfsTer10
XM_017025786.1:c.2196dup	XP_016881275.1:p.Pro733SerfsTer10
XM_017025787.1:c.2196dup	XP_016881276.1:p.Pro733SerfsTer10