Canonical Allele Identifier: CA2641276878

Gene: NPC1

Linked Data

• gnomAD v4: 18-23544937-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544937_23544938insC , CM000680.2:g.23544937_23544938insC	GRCh38
NC_000018.9:g.21124901_21124902insC , CM000680.1:g.21124901_21124902insC	GRCh37
NC_000018.8:g.19378899_19378900insC	NCBI36
NG_012795.1:g.46680_46681insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+22_1947+23insG MANE Select	ENSP00000269228.4:n.1947+22_1947+23insG
ENST00000269228.9:c.1947+22_1947+23insG	ENSP00000269228.4:n.1947+22_1947+23insG
ENST00000540608.5:n.1861+22_1861+23insG
ENST00000591051.1:c.1025+22_1025+23insG
NM_000271.4:c.1947+22_1947+23insG	NP_000262.2:n.1947+22_1947+23insG
XM_005258277.1:c.1998+22_1998+23insG	XP_005258334.1:n.1998+22_1998+23insG
XM_005258278.3:c.1998+22_1998+23insG	XP_005258335.1:n.1998+22_1998+23insG
XM_005258279.1:c.1947+22_1947+23insG	XP_005258336.1:n.1947+22_1947+23insG
XM_006722479.2:c.1998+22_1998+23insG	XP_006722542.1:n.1998+22_1998+23insG
XM_011526015.1:c.1533+22_1533+23insG	XP_011524317.1:n.1533+22_1533+23insG
XM_005258278.5:c.1998+22_1998+23insG	XP_005258335.1:n.1998+22_1998+23insG
XM_005258279.2:c.1947+22_1947+23insG	XP_005258336.1:n.1947+22_1947+23insG
XM_006722479.3:c.1998+22_1998+23insG	XP_006722542.1:n.1998+22_1998+23insG
XM_017025784.1:c.1998+22_1998+23insG	XP_016881273.1:n.1998+22_1998+23insG
XM_017025785.1:c.1998+22_1998+23insG	XP_016881274.1:n.1998+22_1998+23insG
XM_017025786.1:c.1947+22_1947+23insG	XP_016881275.1:n.1947+22_1947+23insG
XM_017025787.1:c.1947+22_1947+23insG	XP_016881276.1:n.1947+22_1947+23insG
NM_000271.5:c.1947+22_1947+23insG MANE Select	NP_000262.2:n.1947+22_1947+23insG