Canonical Allele Identifier: CA2831039018

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568947_23568950dup , CM000680.2:g.23568947_23568950dup	GRCh38
NC_000018.9:g.21148911_21148914dup , CM000680.1:g.21148911_21148914dup	GRCh37
NC_000018.8:g.19402909_19402912dup	NCBI36
NG_012795.1:g.22669_22672dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.337_340dup MANE Select	ENSP00000269228.4:p.Ser114MetfsTer2
ENST00000269228.9:c.337_340dup	ENSP00000269228.4:p.Ser114MetfsTer2
ENST00000540608.5:n.251_254dup
NM_000271.4:c.337_340dup	NP_000262.2:p.Ser114MetfsTer2
XM_005258277.1:c.337_340dup	XP_005258334.1:p.Ser114MetfsTer2
XM_005258278.3:c.337_340dup	XP_005258335.1:p.Ser114MetfsTer2
XM_005258279.1:c.337_340dup	XP_005258336.1:p.Ser114MetfsTer2
XM_006722479.2:c.337_340dup	XP_006722542.1:p.Ser114MetfsTer2
XM_011526015.1:c.-129_-126dup	XP_011524317.1:n.-129_-126dup
XM_005258278.5:c.337_340dup	XP_005258335.1:p.Ser114MetfsTer2
XM_005258279.2:c.337_340dup	XP_005258336.1:p.Ser114MetfsTer2
XM_006722479.3:c.337_340dup	XP_006722542.1:p.Ser114MetfsTer2
XM_017025784.1:c.337_340dup	XP_016881273.1:p.Ser114MetfsTer2
XM_017025785.1:c.337_340dup	XP_016881274.1:p.Ser114MetfsTer2
XM_017025786.1:c.337_340dup	XP_016881275.1:p.Ser114MetfsTer2
XM_017025787.1:c.337_340dup	XP_016881276.1:p.Ser114MetfsTer2
NM_000271.5:c.337_340dup MANE Select	NP_000262.2:p.Ser114MetfsTer2