Canonical Allele Identifier: CA777725061

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1539541
• ClinVar RCV Id: RCV002169638 ; RCV003893115
• dbSNP Id: rs1555634643
• gnomAD v3: 18-23544946-C-CT
• gnomAD v4: 18-23544946-C-CT
• MyVariant Identifiers: chr18:g.21124910_21124911insT (hg19) ; chr18:g.23544946_23544947insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544946_23544947insT , CM000680.2:g.23544946_23544947insT	GRCh38
NC_000018.9:g.21124910_21124911insT , CM000680.1:g.21124910_21124911insT	GRCh37
NC_000018.8:g.19378908_19378909insT	NCBI36
NG_012795.1:g.46671_46672insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+13_1947+14insA MANE Select	ENSP00000269228.4:n.1947+13_1947+14insA
ENST00000269228.9:c.1947+13_1947+14insA	ENSP00000269228.4:n.1947+13_1947+14insA
ENST00000540608.5:n.1861+13_1861+14insA
ENST00000591051.1:c.1025+13_1025+14insA
NM_000271.4:c.1947+13_1947+14insA	NP_000262.2:n.1947+13_1947+14insA
XM_005258277.1:c.1998+13_1998+14insA	XP_005258334.1:n.1998+13_1998+14insA
XM_005258278.3:c.1998+13_1998+14insA	XP_005258335.1:n.1998+13_1998+14insA
XM_005258279.1:c.1947+13_1947+14insA	XP_005258336.1:n.1947+13_1947+14insA
XM_006722479.2:c.1998+13_1998+14insA	XP_006722542.1:n.1998+13_1998+14insA
XM_011526015.1:c.1533+13_1533+14insA	XP_011524317.1:n.1533+13_1533+14insA
XM_005258278.5:c.1998+13_1998+14insA	XP_005258335.1:n.1998+13_1998+14insA
XM_005258279.2:c.1947+13_1947+14insA	XP_005258336.1:n.1947+13_1947+14insA
XM_006722479.3:c.1998+13_1998+14insA	XP_006722542.1:n.1998+13_1998+14insA
XM_017025784.1:c.1998+13_1998+14insA	XP_016881273.1:n.1998+13_1998+14insA
XM_017025785.1:c.1998+13_1998+14insA	XP_016881274.1:n.1998+13_1998+14insA
XM_017025786.1:c.1947+13_1947+14insA	XP_016881275.1:n.1947+13_1947+14insA
XM_017025787.1:c.1947+13_1947+14insA	XP_016881276.1:n.1947+13_1947+14insA
NM_000271.5:c.1947+13_1947+14insA MANE Select	NP_000262.2:n.1947+13_1947+14insA