Canonical Allele Identifier: CA297079171

Gene: NPC1

Linked Data

• ClinVar Variation Id: 666978
• ClinVar RCV Id: RCV000825536
• dbSNP Id: rs768299417
• gnomAD v2: 18-21115499-G-GT
• gnomAD v3: 18-23535535-G-GT
• gnomAD v4: 18-23535535-G-GT
• MyVariant Identifiers: chr18:g.21115499_21115500insT (hg19) ; chr18:g.23535535_23535536insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535537dup , CM000680.2:g.23535537dup	GRCh38
NC_000018.9:g.21115501dup , CM000680.1:g.21115501dup	GRCh37
NC_000018.8:g.19369499dup	NCBI36
NG_012795.1:g.56082dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3410dup MANE Select	ENSP00000269228.4:p.Asn1137LysfsTer?
ENST00000269228.9:c.3410dup	ENSP00000269228.4:p.Asn1137LysfsTer?
ENST00000586150.5:c.165dup
ENST00000588867.1:n.165dup
ENST00000591051.1:c.2488dup
ENST00000591107.6:c.87dup
NM_000271.4:c.3410dup	NP_000262.2:p.Asn1137LysfsTer?
XM_005258277.1:c.3461dup	XP_005258334.1:p.Asn1154LysfsTer?
XM_005258278.3:c.3461dup	XP_005258335.1:p.Asn1154LysfsTer?
XM_005258279.1:c.3410dup	XP_005258336.1:p.Asn1137LysfsTer?
XM_006722479.2:c.3461dup	XP_006722542.1:p.Asn1154LysfsTer?
XM_011526015.1:c.2996dup	XP_011524317.1:p.Asn999LysfsTer?
XM_005258278.5:c.3461dup	XP_005258335.1:p.Asn1154LysfsTer?
XM_005258279.2:c.3410dup	XP_005258336.1:p.Asn1137LysfsTer?
XM_006722479.3:c.3461dup	XP_006722542.1:p.Asn1154LysfsTer?
XM_017025784.1:c.3461dup	XP_016881273.1:p.Asn1154LysfsTer?
XM_017025785.1:c.3461dup	XP_016881274.1:p.Asn1154LysfsTer?
XM_017025786.1:c.3410dup	XP_016881275.1:p.Asn1137LysfsTer?
XM_017025787.1:c.3410dup	XP_016881276.1:p.Asn1137LysfsTer?
NM_000271.5:c.3410dup MANE Select	NP_000262.2:p.Asn1137LysfsTer?