Canonical Allele Identifier: CA2641278064

Gene: NPC1

Linked Data

• gnomAD v4: 18-23534381-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534382_23534383dup , CM000680.2:g.23534382_23534383dup	GRCh38
NC_000018.9:g.21114346_21114347dup , CM000680.1:g.21114346_21114347dup	GRCh37
NC_000018.8:g.19368344_19368345dup	NCBI36
NG_012795.1:g.57235_57236dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3591+63_3591+64dup MANE Select	ENSP00000269228.4:n.3591+63_3591+64dup
ENST00000269228.9:c.3591+63_3591+64dup	ENSP00000269228.4:n.3591+63_3591+64dup
ENST00000586150.5:c.346+63_346+64dup
ENST00000587163.1:n.115+63_115+64dup
ENST00000588867.1:n.409_410dup
ENST00000591051.1:c.2669+63_2669+64dup
ENST00000591107.6:c.268+63_268+64dup
NM_000271.4:c.3591+63_3591+64dup	NP_000262.2:n.3591+63_3591+64dup
XM_005258277.1:c.3642+63_3642+64dup	XP_005258334.1:n.3642+63_3642+64dup
XM_005258278.3:c.3642+63_3642+64dup	XP_005258335.1:n.3642+63_3642+64dup
XM_005258279.1:c.3591+63_3591+64dup	XP_005258336.1:n.3591+63_3591+64dup
XM_006722479.2:c.3642+63_3642+64dup	XP_006722542.1:n.3642+63_3642+64dup
XM_011526015.1:c.3177+63_3177+64dup	XP_011524317.1:n.3177+63_3177+64dup
XM_005258278.5:c.3642+63_3642+64dup	XP_005258335.1:n.3642+63_3642+64dup
XM_005258279.2:c.3591+63_3591+64dup	XP_005258336.1:n.3591+63_3591+64dup
XM_006722479.3:c.3642+63_3642+64dup	XP_006722542.1:n.3642+63_3642+64dup
XM_017025784.1:c.3642+63_3642+64dup	XP_016881273.1:n.3642+63_3642+64dup
XM_017025785.1:c.3642+63_3642+64dup	XP_016881274.1:n.3642+63_3642+64dup
XM_017025786.1:c.3591+63_3591+64dup	XP_016881275.1:n.3591+63_3591+64dup
XM_017025787.1:c.3591+63_3591+64dup	XP_016881276.1:n.3591+63_3591+64dup
NM_000271.5:c.3591+63_3591+64dup MANE Select	NP_000262.2:n.3591+63_3591+64dup