Canonical Allele Identifier: CA2641278434

Gene: NPC1

Linked Data

• gnomAD v4: 18-23535632-GACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535633_23535635del , CM000680.2:g.23535633_23535635del	GRCh38
NC_000018.9:g.21115597_21115599del , CM000680.1:g.21115597_21115599del	GRCh37
NC_000018.8:g.19369595_19369597del	NCBI36
NG_012795.1:g.55983_55985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3311_3313del MANE Select	ENSP00000269228.4:p.Val1104_Ser1105delinsAla
ENST00000269228.9:c.3311_3313del	ENSP00000269228.4:p.Val1104_Ser1105delinsAla
ENST00000586150.5:c.66_68del
ENST00000588867.1:n.66_68del
ENST00000591051.1:c.2389_2391del
NM_000271.4:c.3311_3313del	NP_000262.2:p.Val1104_Ser1105delinsAla
XM_005258277.1:c.3362_3364del	XP_005258334.1:p.Val1121_Ser1122delinsAla
XM_005258278.3:c.3362_3364del	XP_005258335.1:p.Val1121_Ser1122delinsAla
XM_005258279.1:c.3311_3313del	XP_005258336.1:p.Val1104_Ser1105delinsAla
XM_006722479.2:c.3362_3364del	XP_006722542.1:p.Val1121_Ser1122delinsAla
XM_011526015.1:c.2897_2899del	XP_011524317.1:p.Val966_Ser967delinsAla
XM_005258278.5:c.3362_3364del	XP_005258335.1:p.Val1121_Ser1122delinsAla
XM_005258279.2:c.3311_3313del	XP_005258336.1:p.Val1104_Ser1105delinsAla
XM_006722479.3:c.3362_3364del	XP_006722542.1:p.Val1121_Ser1122delinsAla
XM_017025784.1:c.3362_3364del	XP_016881273.1:p.Val1121_Ser1122delinsAla
XM_017025785.1:c.3362_3364del	XP_016881274.1:p.Val1121_Ser1122delinsAla
XM_017025786.1:c.3311_3313del	XP_016881275.1:p.Val1104_Ser1105delinsAla
XM_017025787.1:c.3311_3313del	XP_016881276.1:p.Val1104_Ser1105delinsAla
NM_000271.5:c.3311_3313del MANE Select	NP_000262.2:p.Val1104_Ser1105delinsAla