Canonical Allele Identifier: CA2965500235

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534536_23534537del , CM000680.2:g.23534536_23534537del	GRCh38
NC_000018.9:g.21114500_21114501del , CM000680.1:g.21114500_21114501del	GRCh37
NC_000018.8:g.19368498_19368499del	NCBI36
NG_012795.1:g.57082_57083del

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3501_3502del MANE Select	NP_000262.2:p.Phe1167LeufsTer?
ENST00000269228.10:c.3501_3502del MANE Select	ENSP00000269228.4:p.Phe1167LeufsTer?
NM_000271.4:c.3501_3502del	NP_000262.2:p.Phe1167LeufsTer?
ENST00000269228.9:c.3501_3502del	ENSP00000269228.4:p.Phe1167LeufsTer?
ENST00000586150.5:c.256_257del
ENST00000587163.1:n.25_26del
ENST00000588867.1:n.256_257del
ENST00000591051.1:c.2579_2580del
ENST00000591107.6:c.178_179del
XM_005258277.1:c.3552_3553del	XP_005258334.1:p.Phe1184LeufsTer?
XM_005258278.3:c.3552_3553del	XP_005258335.1:p.Phe1184LeufsTer?
XM_005258278.5:c.3552_3553del	XP_005258335.1:p.Phe1184LeufsTer?
XM_005258279.1:c.3501_3502del	XP_005258336.1:p.Phe1167LeufsTer?
XM_005258279.2:c.3501_3502del	XP_005258336.1:p.Phe1167LeufsTer?
XM_006722479.2:c.3552_3553del	XP_006722542.1:p.Phe1184LeufsTer?
XM_006722479.3:c.3552_3553del	XP_006722542.1:p.Phe1184LeufsTer?
XM_011526015.1:c.3087_3088del	XP_011524317.1:p.Phe1029LeufsTer?
XM_017025784.1:c.3552_3553del	XP_016881273.1:p.Phe1184LeufsTer?
XM_017025785.1:c.3552_3553del	XP_016881274.1:p.Phe1184LeufsTer?
XM_017025786.1:c.3501_3502del	XP_016881275.1:p.Phe1167LeufsTer?
XM_017025787.1:c.3501_3502del	XP_016881276.1:p.Phe1167LeufsTer?