Canonical Allele Identifier: CA8913375

Gene: NPC1

Linked Data

• dbSNP Id: rs757589544
• ExAC: 18:21125140 TTTAG / T
• gnomAD v2: 18-21125140-TTTAG-T
• gnomAD v4: 18-23545176-TTTAG-T
• MyVariant Identifiers: chr18:g.21125141_21125144del (hg19) ; chr18:g.23545177_23545180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545180_23545183del , CM000680.2:g.23545180_23545183del	GRCh38
NC_000018.9:g.21125144_21125147del , CM000680.1:g.21125144_21125147del	GRCh37
NC_000018.8:g.19379142_19379145del	NCBI36
NG_012795.1:g.46438_46441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1758-31_1758-28del MANE Select	ENSP00000269228.4:n.1758-31_1758-28del
ENST00000269228.9:c.1758-31_1758-28del	ENSP00000269228.4:n.1758-31_1758-28del
ENST00000540608.5:n.1672-31_1672-28del
ENST00000591051.1:c.836-31_836-28del
NM_000271.4:c.1758-31_1758-28del	NP_000262.2:n.1758-31_1758-28del
XM_005258277.1:c.1809-31_1809-28del	XP_005258334.1:n.1809-31_1809-28del
XM_005258278.3:c.1809-31_1809-28del	XP_005258335.1:n.1809-31_1809-28del
XM_005258279.1:c.1758-31_1758-28del	XP_005258336.1:n.1758-31_1758-28del
XM_006722479.2:c.1809-31_1809-28del	XP_006722542.1:n.1809-31_1809-28del
XM_011526015.1:c.1344-31_1344-28del	XP_011524317.1:n.1344-31_1344-28del
XM_005258278.5:c.1809-31_1809-28del	XP_005258335.1:n.1809-31_1809-28del
XM_005258279.2:c.1758-31_1758-28del	XP_005258336.1:n.1758-31_1758-28del
XM_006722479.3:c.1809-31_1809-28del	XP_006722542.1:n.1809-31_1809-28del
XM_017025784.1:c.1809-31_1809-28del	XP_016881273.1:n.1809-31_1809-28del
XM_017025785.1:c.1809-31_1809-28del	XP_016881274.1:n.1809-31_1809-28del
XM_017025786.1:c.1758-31_1758-28del	XP_016881275.1:n.1758-31_1758-28del
XM_017025787.1:c.1758-31_1758-28del	XP_016881276.1:n.1758-31_1758-28del
NM_000271.5:c.1758-31_1758-28del MANE Select	NP_000262.2:n.1758-31_1758-28del