Canonical Allele Identifier: CA988383851

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2955735
• ClinVar RCV Id: RCV003810886
• gnomAD v3: 18-23544943-A-ACAC
• gnomAD v4: 18-23544943-A-ACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544944_23544945insACC , CM000680.2:g.23544944_23544945insACC	GRCh38
NC_000018.9:g.21124908_21124909insACC , CM000680.1:g.21124908_21124909insACC	GRCh37
NC_000018.8:g.19378906_19378907insACC	NCBI36
NG_012795.1:g.46674_46675insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+16_1947+17insGTG MANE Select	ENSP00000269228.4:n.1947+16_1947+17insGTG
ENST00000269228.9:c.1947+16_1947+17insGTG	ENSP00000269228.4:n.1947+16_1947+17insGTG
ENST00000540608.5:n.1861+16_1861+17insGTG
ENST00000591051.1:c.1025+16_1025+17insGTG
NM_000271.4:c.1947+16_1947+17insGTG	NP_000262.2:n.1947+16_1947+17insGTG
XM_005258277.1:c.1998+16_1998+17insGTG	XP_005258334.1:n.1998+16_1998+17insGTG
XM_005258278.3:c.1998+16_1998+17insGTG	XP_005258335.1:n.1998+16_1998+17insGTG
XM_005258279.1:c.1947+16_1947+17insGTG	XP_005258336.1:n.1947+16_1947+17insGTG
XM_006722479.2:c.1998+16_1998+17insGTG	XP_006722542.1:n.1998+16_1998+17insGTG
XM_011526015.1:c.1533+16_1533+17insGTG	XP_011524317.1:n.1533+16_1533+17insGTG
XM_005258278.5:c.1998+16_1998+17insGTG	XP_005258335.1:n.1998+16_1998+17insGTG
XM_005258279.2:c.1947+16_1947+17insGTG	XP_005258336.1:n.1947+16_1947+17insGTG
XM_006722479.3:c.1998+16_1998+17insGTG	XP_006722542.1:n.1998+16_1998+17insGTG
XM_017025784.1:c.1998+16_1998+17insGTG	XP_016881273.1:n.1998+16_1998+17insGTG
XM_017025785.1:c.1998+16_1998+17insGTG	XP_016881274.1:n.1998+16_1998+17insGTG
XM_017025786.1:c.1947+16_1947+17insGTG	XP_016881275.1:n.1947+16_1947+17insGTG
XM_017025787.1:c.1947+16_1947+17insGTG	XP_016881276.1:n.1947+16_1947+17insGTG
NM_000271.5:c.1947+16_1947+17insGTG MANE Select	NP_000262.2:n.1947+16_1947+17insGTG