Canonical Allele Identifier: CA8912761

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1647762
• ClinVar RCV Id: RCV002153801
• dbSNP Id: rs754658312
• ExAC: 18:21115411 CTG / C
• gnomAD v2: 18-21115411-CTG-C
• gnomAD v3: 18-23535447-CTG-C
• gnomAD v4: 18-23535447-CTG-C
• MyVariant Identifiers: chr18:g.21115412_21115413del (hg19) ; chr18:g.23535448_23535449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535448_23535449del , CM000680.2:g.23535448_23535449del	GRCh38
NC_000018.9:g.21115412_21115413del , CM000680.1:g.21115412_21115413del	GRCh37
NC_000018.8:g.19369410_19369411del	NCBI36
NG_012795.1:g.56169_56170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3477+20_3477+21del MANE Select	ENSP00000269228.4:n.3477+20_3477+21del
ENST00000269228.9:c.3477+20_3477+21del	ENSP00000269228.4:n.3477+20_3477+21del
ENST00000586150.5:c.232+20_232+21del
ENST00000588867.1:n.232+20_232+21del
ENST00000591051.1:c.2555+20_2555+21del
ENST00000591107.6:c.154+20_154+21del
NM_000271.4:c.3477+20_3477+21del	NP_000262.2:n.3477+20_3477+21del
XM_005258277.1:c.3528+20_3528+21del	XP_005258334.1:n.3528+20_3528+21del
XM_005258278.3:c.3528+20_3528+21del	XP_005258335.1:n.3528+20_3528+21del
XM_005258279.1:c.3477+20_3477+21del	XP_005258336.1:n.3477+20_3477+21del
XM_006722479.2:c.3528+20_3528+21del	XP_006722542.1:n.3528+20_3528+21del
XM_011526015.1:c.3063+20_3063+21del	XP_011524317.1:n.3063+20_3063+21del
XM_005258278.5:c.3528+20_3528+21del	XP_005258335.1:n.3528+20_3528+21del
XM_005258279.2:c.3477+20_3477+21del	XP_005258336.1:n.3477+20_3477+21del
XM_006722479.3:c.3528+20_3528+21del	XP_006722542.1:n.3528+20_3528+21del
XM_017025784.1:c.3528+20_3528+21del	XP_016881273.1:n.3528+20_3528+21del
XM_017025785.1:c.3528+20_3528+21del	XP_016881274.1:n.3528+20_3528+21del
XM_017025786.1:c.3477+20_3477+21del	XP_016881275.1:n.3477+20_3477+21del
XM_017025787.1:c.3477+20_3477+21del	XP_016881276.1:n.3477+20_3477+21del
NM_000271.5:c.3477+20_3477+21del MANE Select	NP_000262.2:n.3477+20_3477+21del