Canonical Allele Identifier: CA297060538

Gene: NPC1

Linked Data

• ClinVar Variation Id: 732149
• ClinVar RCV Id: RCV001493946
• dbSNP Id: rs1555634685
• gnomAD v3: 18-23544950-C-CCCG
• gnomAD v4: 18-23544950-C-CCCG
• MyVariant Identifiers: chr18:g.21124914_21124915insCCG (hg19) ; chr18:g.23544950_23544951insCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544951_23544953dup , CM000680.2:g.23544951_23544953dup	GRCh38
NC_000018.9:g.21124915_21124917dup , CM000680.1:g.21124915_21124917dup	GRCh37
NC_000018.8:g.19378913_19378915dup	NCBI36
NG_012795.1:g.46665_46667dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+7_1947+9dup MANE Select	ENSP00000269228.4:n.1947+7_1947+9dup
ENST00000269228.9:c.1947+7_1947+9dup	ENSP00000269228.4:n.1947+7_1947+9dup
ENST00000540608.5:n.1861+7_1861+9dup
ENST00000591051.1:c.1025+7_1025+9dup
NM_000271.4:c.1947+7_1947+9dup	NP_000262.2:n.1947+7_1947+9dup
XM_005258277.1:c.1998+7_1998+9dup	XP_005258334.1:n.1998+7_1998+9dup
XM_005258278.3:c.1998+7_1998+9dup	XP_005258335.1:n.1998+7_1998+9dup
XM_005258279.1:c.1947+7_1947+9dup	XP_005258336.1:n.1947+7_1947+9dup
XM_006722479.2:c.1998+7_1998+9dup	XP_006722542.1:n.1998+7_1998+9dup
XM_011526015.1:c.1533+7_1533+9dup	XP_011524317.1:n.1533+7_1533+9dup
XM_005258278.5:c.1998+7_1998+9dup	XP_005258335.1:n.1998+7_1998+9dup
XM_005258279.2:c.1947+7_1947+9dup	XP_005258336.1:n.1947+7_1947+9dup
XM_006722479.3:c.1998+7_1998+9dup	XP_006722542.1:n.1998+7_1998+9dup
XM_017025784.1:c.1998+7_1998+9dup	XP_016881273.1:n.1998+7_1998+9dup
XM_017025785.1:c.1998+7_1998+9dup	XP_016881274.1:n.1998+7_1998+9dup
XM_017025786.1:c.1947+7_1947+9dup	XP_016881275.1:n.1947+7_1947+9dup
XM_017025787.1:c.1947+7_1947+9dup	XP_016881276.1:n.1947+7_1947+9dup
NM_000271.5:c.1947+7_1947+9dup MANE Select	NP_000262.2:n.1947+7_1947+9dup