Canonical Allele Identifier: CA2641276266

Gene: NPC1

Linked Data

• gnomAD v4: 18-23544528-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544534_23544535del , CM000680.2:g.23544534_23544535del	GRCh38
NC_000018.9:g.21124498_21124499del , CM000680.1:g.21124498_21124499del	GRCh37
NC_000018.8:g.19378496_19378497del	NCBI36
NG_012795.1:g.47088_47089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1948-4_1948-3del MANE Select	ENSP00000269228.4:n.1948-4_1948-3del
ENST00000269228.9:c.1948-4_1948-3del	ENSP00000269228.4:n.1948-4_1948-3del
ENST00000540608.5:n.1862-4_1862-3del
ENST00000591051.1:c.1026-4_1026-3del
NM_000271.4:c.1948-4_1948-3del	NP_000262.2:n.1948-4_1948-3del
XM_005258277.1:c.1999-4_1999-3del	XP_005258334.1:n.1999-4_1999-3del
XM_005258278.3:c.1999-4_1999-3del	XP_005258335.1:n.1999-4_1999-3del
XM_005258279.1:c.1948-4_1948-3del	XP_005258336.1:n.1948-4_1948-3del
XM_006722479.2:c.1999-4_1999-3del	XP_006722542.1:n.1999-4_1999-3del
XM_011526015.1:c.1534-4_1534-3del	XP_011524317.1:n.1534-4_1534-3del
XM_005258278.5:c.1999-4_1999-3del	XP_005258335.1:n.1999-4_1999-3del
XM_005258279.2:c.1948-4_1948-3del	XP_005258336.1:n.1948-4_1948-3del
XM_006722479.3:c.1999-4_1999-3del	XP_006722542.1:n.1999-4_1999-3del
XM_017025784.1:c.1999-4_1999-3del	XP_016881273.1:n.1999-4_1999-3del
XM_017025785.1:c.1999-4_1999-3del	XP_016881274.1:n.1999-4_1999-3del
XM_017025786.1:c.1948-4_1948-3del	XP_016881275.1:n.1948-4_1948-3del
XM_017025787.1:c.1948-4_1948-3del	XP_016881276.1:n.1948-4_1948-3del
NM_000271.5:c.1948-4_1948-3del MANE Select	NP_000262.2:n.1948-4_1948-3del