Canonical Allele Identifier: CA628978849

Gene: NPC1

Linked Data

• gnomAD v2: 18-21136301-C-CGGATGATGAGCT
• gnomAD v4: 18-23556337-C-CGGATGATGAGCT
• MyVariant Identifiers: chr18:g.21136302_21136303insGATGATGAGCTG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556339_23556350dup , CM000680.2:g.23556339_23556350dup	GRCh38
NC_000018.9:g.21136303_21136314dup , CM000680.1:g.21136303_21136314dup	GRCh37
NC_000018.8:g.19390301_19390312dup	NCBI36
NG_012795.1:g.35269_35280dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1220_1231dup MANE Select	ENSP00000269228.4:p.Ile410_Arg411insGlnLeuIleIle
ENST00000269228.9:c.1220_1231dup	ENSP00000269228.4:p.Ile410_Arg411insGlnLeuIleIle
ENST00000540608.5:n.1134_1145dup
ENST00000591051.1:c.502_513dup
NM_000271.4:c.1220_1231dup	NP_000262.2:p.Ile410_Arg411insGlnLeuIleIle
XM_005258277.1:c.1271_1282dup	XP_005258334.1:p.Ile427_Arg428insGlnLeuIleIle
XM_005258278.3:c.1271_1282dup	XP_005258335.1:p.Ile427_Arg428insGlnLeuIleIle
XM_005258279.1:c.1220_1231dup	XP_005258336.1:p.Ile410_Arg411insGlnLeuIleIle
XM_006722479.2:c.1271_1282dup	XP_006722542.1:p.Ile427_Arg428insGlnLeuIleIle
XM_011526015.1:c.806_817dup	XP_011524317.1:p.Ile272_Arg273insGlnLeuIleIle
XM_005258278.5:c.1271_1282dup	XP_005258335.1:p.Ile427_Arg428insGlnLeuIleIle
XM_005258279.2:c.1220_1231dup	XP_005258336.1:p.Ile410_Arg411insGlnLeuIleIle
XM_006722479.3:c.1271_1282dup	XP_006722542.1:p.Ile427_Arg428insGlnLeuIleIle
XM_017025784.1:c.1271_1282dup	XP_016881273.1:p.Ile427_Arg428insGlnLeuIleIle
XM_017025785.1:c.1271_1282dup	XP_016881274.1:p.Ile427_Arg428insGlnLeuIleIle
XM_017025786.1:c.1220_1231dup	XP_016881275.1:p.Ile410_Arg411insGlnLeuIleIle
XM_017025787.1:c.1220_1231dup	XP_016881276.1:p.Ile410_Arg411insGlnLeuIleIle
NM_000271.5:c.1220_1231dup MANE Select	NP_000262.2:p.Ile410_Arg411insGlnLeuIleIle