Canonical Allele Identifier: CA8913481

Gene: NPC1

Linked Data

• dbSNP Id: rs758597983
• ExAC: 18:21134952 AAAG / A
• gnomAD v2: 18-21134952-AAAG-A
• gnomAD v3: 18-23554988-AAAG-A
• gnomAD v4: 18-23554988-AAAG-A
• MyVariant Identifiers: chr18:g.21134953_21134955del (hg19) ; chr18:g.23554989_23554991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554993_23554995del , CM000680.2:g.23554993_23554995del	GRCh38
NC_000018.9:g.21134957_21134959del , CM000680.1:g.21134957_21134959del	GRCh37
NC_000018.8:g.19388955_19388957del	NCBI36
NG_012795.1:g.36627_36629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1327-7_1327-5del MANE Select	ENSP00000269228.4:n.1327-7_1327-5del
ENST00000269228.9:c.1327-7_1327-5del	ENSP00000269228.4:n.1327-7_1327-5del
ENST00000540608.5:n.1241-7_1241-5del
ENST00000591051.1:c.609-7_609-5del
NM_000271.4:c.1327-7_1327-5del	NP_000262.2:n.1327-7_1327-5del
XM_005258277.1:c.1378-7_1378-5del	XP_005258334.1:n.1378-7_1378-5del
XM_005258278.3:c.1378-7_1378-5del	XP_005258335.1:n.1378-7_1378-5del
XM_005258279.1:c.1327-7_1327-5del	XP_005258336.1:n.1327-7_1327-5del
XM_006722479.2:c.1378-7_1378-5del	XP_006722542.1:n.1378-7_1378-5del
XM_011526015.1:c.913-7_913-5del	XP_011524317.1:n.913-7_913-5del
XM_005258278.5:c.1378-7_1378-5del	XP_005258335.1:n.1378-7_1378-5del
XM_005258279.2:c.1327-7_1327-5del	XP_005258336.1:n.1327-7_1327-5del
XM_006722479.3:c.1378-7_1378-5del	XP_006722542.1:n.1378-7_1378-5del
XM_017025784.1:c.1378-7_1378-5del	XP_016881273.1:n.1378-7_1378-5del
XM_017025785.1:c.1378-7_1378-5del	XP_016881274.1:n.1378-7_1378-5del
XM_017025786.1:c.1327-7_1327-5del	XP_016881275.1:n.1327-7_1327-5del
XM_017025787.1:c.1327-7_1327-5del	XP_016881276.1:n.1327-7_1327-5del
NM_000271.5:c.1327-7_1327-5del MANE Select	NP_000262.2:n.1327-7_1327-5del