Canonical Allele Identifier: CA2641273898

Gene: NPC1

Linked Data

• gnomAD v4: 18-23540009-AAAGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540012_23540016del , CM000680.2:g.23540012_23540016del	GRCh38
NC_000018.9:g.21119976_21119980del , CM000680.1:g.21119976_21119980del	GRCh37
NC_000018.8:g.19373974_19373978del	NCBI36
NG_012795.1:g.51604_51608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-13_2605-9del MANE Select	ENSP00000269228.4:n.2605-13_2605-9del
ENST00000269228.9:c.2605-13_2605-9del	ENSP00000269228.4:n.2605-13_2605-9del
ENST00000540608.5:n.2519-13_2519-9del
ENST00000586718.1:n.396-13_396-9del
ENST00000591051.1:c.1683-13_1683-9del
NM_000271.4:c.2605-13_2605-9del	NP_000262.2:n.2605-13_2605-9del
XM_005258277.1:c.2656-13_2656-9del	XP_005258334.1:n.2656-13_2656-9del
XM_005258278.3:c.2656-13_2656-9del	XP_005258335.1:n.2656-13_2656-9del
XM_005258279.1:c.2605-13_2605-9del	XP_005258336.1:n.2605-13_2605-9del
XM_006722479.2:c.2656-13_2656-9del	XP_006722542.1:n.2656-13_2656-9del
XM_011526015.1:c.2191-13_2191-9del	XP_011524317.1:n.2191-13_2191-9del
XM_005258278.5:c.2656-13_2656-9del	XP_005258335.1:n.2656-13_2656-9del
XM_005258279.2:c.2605-13_2605-9del	XP_005258336.1:n.2605-13_2605-9del
XM_006722479.3:c.2656-13_2656-9del	XP_006722542.1:n.2656-13_2656-9del
XM_017025784.1:c.2656-13_2656-9del	XP_016881273.1:n.2656-13_2656-9del
XM_017025785.1:c.2656-13_2656-9del	XP_016881274.1:n.2656-13_2656-9del
XM_017025786.1:c.2605-13_2605-9del	XP_016881275.1:n.2605-13_2605-9del
XM_017025787.1:c.2605-13_2605-9del	XP_016881276.1:n.2605-13_2605-9del
NM_000271.5:c.2605-13_2605-9del MANE Select	NP_000262.2:n.2605-13_2605-9del