Canonical Allele Identifier: CA2641271926

Gene: NPC1

Linked Data

• gnomAD v4: 18-23538694-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538695_23538696del , CM000680.2:g.23538695_23538696del	GRCh38
NC_000018.9:g.21118659_21118660del , CM000680.1:g.21118659_21118660del	GRCh37
NC_000018.8:g.19372657_19372658del	NCBI36
NG_012795.1:g.52922_52923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2912-25_2912-24del MANE Select	ENSP00000269228.4:n.2912-25_2912-24del
ENST00000269228.9:c.2912-25_2912-24del	ENSP00000269228.4:n.2912-25_2912-24del
ENST00000591051.1:c.1990-25_1990-24del
ENST00000591075.1:n.545-25_545-24del
ENST00000591955.1:n.230_231del
NM_000271.4:c.2912-25_2912-24del	NP_000262.2:n.2912-25_2912-24del
XM_005258277.1:c.2963-25_2963-24del	XP_005258334.1:n.2963-25_2963-24del
XM_005258278.3:c.2963-25_2963-24del	XP_005258335.1:n.2963-25_2963-24del
XM_005258279.1:c.2912-25_2912-24del	XP_005258336.1:n.2912-25_2912-24del
XM_006722479.2:c.2963-25_2963-24del	XP_006722542.1:n.2963-25_2963-24del
XM_011526015.1:c.2498-25_2498-24del	XP_011524317.1:n.2498-25_2498-24del
XM_005258278.5:c.2963-25_2963-24del	XP_005258335.1:n.2963-25_2963-24del
XM_005258279.2:c.2912-25_2912-24del	XP_005258336.1:n.2912-25_2912-24del
XM_006722479.3:c.2963-25_2963-24del	XP_006722542.1:n.2963-25_2963-24del
XM_017025784.1:c.2963-25_2963-24del	XP_016881273.1:n.2963-25_2963-24del
XM_017025785.1:c.2963-25_2963-24del	XP_016881274.1:n.2963-25_2963-24del
XM_017025786.1:c.2912-25_2912-24del	XP_016881275.1:n.2912-25_2912-24del
XM_017025787.1:c.2912-25_2912-24del	XP_016881276.1:n.2912-25_2912-24del
NM_000271.5:c.2912-25_2912-24del MANE Select	NP_000262.2:n.2912-25_2912-24del