Canonical Allele Identifier: CA2641273385

Gene: NPC1

Linked Data

• gnomAD v4: 18-23539811-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539812dup , CM000680.2:g.23539812dup	GRCh38
NC_000018.9:g.21119776dup , CM000680.1:g.21119776dup	GRCh37
NC_000018.8:g.19373774dup	NCBI36
NG_012795.1:g.51806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2794dup MANE Select	ENSP00000269228.4:p.Tyr932LeufsTer?
ENST00000269228.9:c.2794dup	ENSP00000269228.4:p.Tyr932LeufsTer?
ENST00000540608.5:n.2708dup
ENST00000591051.1:c.1872dup
ENST00000591075.1:n.87dup
NM_000271.4:c.2794dup	NP_000262.2:p.Tyr932LeufsTer?
XM_005258277.1:c.2845dup	XP_005258334.1:p.Tyr949LeufsTer?
XM_005258278.3:c.2845dup	XP_005258335.1:p.Tyr949LeufsTer?
XM_005258279.1:c.2794dup	XP_005258336.1:p.Tyr932LeufsTer?
XM_006722479.2:c.2845dup	XP_006722542.1:p.Tyr949LeufsTer?
XM_011526015.1:c.2380dup	XP_011524317.1:p.Tyr794LeufsTer?
XM_005258278.5:c.2845dup	XP_005258335.1:p.Tyr949LeufsTer?
XM_005258279.2:c.2794dup	XP_005258336.1:p.Tyr932LeufsTer?
XM_006722479.3:c.2845dup	XP_006722542.1:p.Tyr949LeufsTer?
XM_017025784.1:c.2845dup	XP_016881273.1:p.Tyr949LeufsTer?
XM_017025785.1:c.2845dup	XP_016881274.1:p.Tyr949LeufsTer?
XM_017025786.1:c.2794dup	XP_016881275.1:p.Tyr932LeufsTer?
XM_017025787.1:c.2794dup	XP_016881276.1:p.Tyr932LeufsTer?
NM_000271.5:c.2794dup MANE Select	NP_000262.2:p.Tyr932LeufsTer?