Canonical Allele Identifier: CA2641273249

Gene: NPC1

Linked Data

• gnomAD v4: 18-23539652-AAAGGTTTTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539658_23539667del , CM000680.2:g.23539658_23539667del	GRCh38
NC_000018.9:g.21119622_21119631del , CM000680.1:g.21119622_21119631del	GRCh37
NC_000018.8:g.19373620_19373629del	NCBI36
NG_012795.1:g.51956_51965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2795+149_2795+158del MANE Select	ENSP00000269228.4:n.2795+149_2795+158del
ENST00000269228.9:c.2795+149_2795+158del	ENSP00000269228.4:n.2795+149_2795+158del
ENST00000591051.1:c.1873+149_1873+158del
ENST00000591075.1:n.237_246del
NM_000271.4:c.2795+149_2795+158del	NP_000262.2:n.2795+149_2795+158del
XM_005258277.1:c.2846+149_2846+158del	XP_005258334.1:n.2846+149_2846+158del
XM_005258278.3:c.2846+149_2846+158del	XP_005258335.1:n.2846+149_2846+158del
XM_005258279.1:c.2795+149_2795+158del	XP_005258336.1:n.2795+149_2795+158del
XM_006722479.2:c.2846+149_2846+158del	XP_006722542.1:n.2846+149_2846+158del
XM_011526015.1:c.2381+149_2381+158del	XP_011524317.1:n.2381+149_2381+158del
XM_005258278.5:c.2846+149_2846+158del	XP_005258335.1:n.2846+149_2846+158del
XM_005258279.2:c.2795+149_2795+158del	XP_005258336.1:n.2795+149_2795+158del
XM_006722479.3:c.2846+149_2846+158del	XP_006722542.1:n.2846+149_2846+158del
XM_017025784.1:c.2846+149_2846+158del	XP_016881273.1:n.2846+149_2846+158del
XM_017025785.1:c.2846+149_2846+158del	XP_016881274.1:n.2846+149_2846+158del
XM_017025786.1:c.2795+149_2795+158del	XP_016881275.1:n.2795+149_2795+158del
XM_017025787.1:c.2795+149_2795+158del	XP_016881276.1:n.2795+149_2795+158del
NM_000271.5:c.2795+149_2795+158del MANE Select	NP_000262.2:n.2795+149_2795+158del