Canonical Allele Identifier: CA297084822

Gene: NPC1

Linked Data

• dbSNP Id: rs771515327
• gnomAD v2: 18-21161871-TCCC-T
• gnomAD v3: 18-23581907-TCCC-T
• gnomAD v4: 18-23581907-TCCC-T
• MyVariant Identifiers: chr18:g.21161872_21161874del (hg19) ; chr18:g.23581908_23581910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23581911_23581913del , CM000680.2:g.23581911_23581913del	GRCh38
NC_000018.9:g.21161875_21161877del , CM000680.1:g.21161875_21161877del	GRCh37
NC_000018.8:g.19415873_19415875del	NCBI36
NG_012795.1:g.9708_9710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.57+4377_57+4379del MANE Select	ENSP00000269228.4:n.57+4377_57+4379del
ENST00000269228.9:c.57+4377_57+4379del	ENSP00000269228.4:n.57+4377_57+4379del
ENST00000540608.5:n.201+4377_201+4379del
NM_000271.4:c.57+4377_57+4379del	NP_000262.2:n.57+4377_57+4379del
XM_005258277.1:c.57+4377_57+4379del	XP_005258334.1:n.57+4377_57+4379del
XM_005258278.3:c.57+4377_57+4379del	XP_005258335.1:n.57+4377_57+4379del
XM_005258279.1:c.57+4377_57+4379del	XP_005258336.1:n.57+4377_57+4379del
XM_006722479.2:c.57+4377_57+4379del	XP_006722542.1:n.57+4377_57+4379del
XM_005258278.5:c.57+4377_57+4379del	XP_005258335.1:n.57+4377_57+4379del
XM_005258279.2:c.57+4377_57+4379del	XP_005258336.1:n.57+4377_57+4379del
XM_006722479.3:c.57+4377_57+4379del	XP_006722542.1:n.57+4377_57+4379del
XM_017025784.1:c.57+4377_57+4379del	XP_016881273.1:n.57+4377_57+4379del
XM_017025785.1:c.57+4377_57+4379del	XP_016881274.1:n.57+4377_57+4379del
XM_017025786.1:c.57+4377_57+4379del	XP_016881275.1:n.57+4377_57+4379del
XM_017025787.1:c.57+4377_57+4379del	XP_016881276.1:n.57+4377_57+4379del
NM_000271.5:c.57+4377_57+4379del MANE Select	NP_000262.2:n.57+4377_57+4379del