Canonical Allele Identifier: CA2641273248

Gene: NPC1

Linked Data

• gnomAD v4: 18-23539649-T-TTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539650_23539652dup , CM000680.2:g.23539650_23539652dup	GRCh38
NC_000018.9:g.21119614_21119616dup , CM000680.1:g.21119614_21119616dup	GRCh37
NC_000018.8:g.19373612_19373614dup	NCBI36
NG_012795.1:g.51966_51968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2795+159_2795+161dup MANE Select	ENSP00000269228.4:n.2795+159_2795+161dup
ENST00000269228.9:c.2795+159_2795+161dup	ENSP00000269228.4:n.2795+159_2795+161dup
ENST00000591051.1:c.1873+159_1873+161dup
ENST00000591075.1:n.247_249dup
NM_000271.4:c.2795+159_2795+161dup	NP_000262.2:n.2795+159_2795+161dup
XM_005258277.1:c.2846+159_2846+161dup	XP_005258334.1:n.2846+159_2846+161dup
XM_005258278.3:c.2846+159_2846+161dup	XP_005258335.1:n.2846+159_2846+161dup
XM_005258279.1:c.2795+159_2795+161dup	XP_005258336.1:n.2795+159_2795+161dup
XM_006722479.2:c.2846+159_2846+161dup	XP_006722542.1:n.2846+159_2846+161dup
XM_011526015.1:c.2381+159_2381+161dup	XP_011524317.1:n.2381+159_2381+161dup
XM_005258278.5:c.2846+159_2846+161dup	XP_005258335.1:n.2846+159_2846+161dup
XM_005258279.2:c.2795+159_2795+161dup	XP_005258336.1:n.2795+159_2795+161dup
XM_006722479.3:c.2846+159_2846+161dup	XP_006722542.1:n.2846+159_2846+161dup
XM_017025784.1:c.2846+159_2846+161dup	XP_016881273.1:n.2846+159_2846+161dup
XM_017025785.1:c.2846+159_2846+161dup	XP_016881274.1:n.2846+159_2846+161dup
XM_017025786.1:c.2795+159_2795+161dup	XP_016881275.1:n.2795+159_2795+161dup
XM_017025787.1:c.2795+159_2795+161dup	XP_016881276.1:n.2795+159_2795+161dup
NM_000271.5:c.2795+159_2795+161dup MANE Select	NP_000262.2:n.2795+159_2795+161dup