Canonical Allele Identifier: CA658824814

Gene: NPC1

Linked Data

• ClinVar Variation Id: 555442
• ClinVar RCV Id: RCV000671266
• dbSNP Id: rs1555632977
• gnomAD v4: 18-23538616-CCT-C
• MyVariant Identifiers: chr18:g.23538617_23538618del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538619_23538620del , CM000680.2:g.23538619_23538620del	GRCh38
NC_000018.9:g.21118583_21118584del , CM000680.1:g.21118583_21118584del	GRCh37
NC_000018.8:g.19372581_19372582del	NCBI36
NG_012795.1:g.53000_53001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2965_2966del MANE Select	ENSP00000269228.4:p.Arg989AlafsTer17
ENST00000269228.9:c.2965_2966del	ENSP00000269228.4:p.Arg989AlafsTer17
ENST00000591051.1:c.2043_2044del
ENST00000591075.1:n.598_599del
ENST00000591955.1:n.308_309del
NM_000271.4:c.2965_2966del	NP_000262.2:p.Arg989AlafsTer17
XM_005258277.1:c.3016_3017del	XP_005258334.1:p.Arg1006AlafsTer17
XM_005258278.3:c.3016_3017del	XP_005258335.1:p.Arg1006AlafsTer17
XM_005258279.1:c.2965_2966del	XP_005258336.1:p.Arg989AlafsTer17
XM_006722479.2:c.3016_3017del	XP_006722542.1:p.Arg1006AlafsTer17
XM_011526015.1:c.2551_2552del	XP_011524317.1:p.Arg851AlafsTer17
XM_005258278.5:c.3016_3017del	XP_005258335.1:p.Arg1006AlafsTer17
XM_005258279.2:c.2965_2966del	XP_005258336.1:p.Arg989AlafsTer17
XM_006722479.3:c.3016_3017del	XP_006722542.1:p.Arg1006AlafsTer17
XM_017025784.1:c.3016_3017del	XP_016881273.1:p.Arg1006AlafsTer17
XM_017025785.1:c.3016_3017del	XP_016881274.1:p.Arg1006AlafsTer17
XM_017025786.1:c.2965_2966del	XP_016881275.1:p.Arg989AlafsTer17
XM_017025787.1:c.2965_2966del	XP_016881276.1:p.Arg989AlafsTer17
NM_000271.5:c.2965_2966del MANE Select	NP_000262.2:p.Arg989AlafsTer17