Canonical Allele Identifier: CA988384219

Gene: NPC1

Linked Data

• dbSNP Id: rs2058772545
• gnomAD v3: 18-23545237-C-CTTT
• gnomAD v4: 18-23545237-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545237_23545238insTTT , CM000680.2:g.23545237_23545238insTTT	GRCh38
NC_000018.9:g.21125201_21125202insTTT , CM000680.1:g.21125201_21125202insTTT	GRCh37
NC_000018.8:g.19379199_19379200insTTT	NCBI36
NG_012795.1:g.46380_46381insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1758-89_1758-88insAAA MANE Select	ENSP00000269228.4:n.1758-89_1758-88insAAA
ENST00000269228.9:c.1758-89_1758-88insAAA	ENSP00000269228.4:n.1758-89_1758-88insAAA
ENST00000540608.5:n.1672-89_1672-88insAAA
ENST00000591051.1:c.836-89_836-88insAAA
NM_000271.4:c.1758-89_1758-88insAAA	NP_000262.2:n.1758-89_1758-88insAAA
XM_005258277.1:c.1809-89_1809-88insAAA	XP_005258334.1:n.1809-89_1809-88insAAA
XM_005258278.3:c.1809-89_1809-88insAAA	XP_005258335.1:n.1809-89_1809-88insAAA
XM_005258279.1:c.1758-89_1758-88insAAA	XP_005258336.1:n.1758-89_1758-88insAAA
XM_006722479.2:c.1809-89_1809-88insAAA	XP_006722542.1:n.1809-89_1809-88insAAA
XM_011526015.1:c.1344-89_1344-88insAAA	XP_011524317.1:n.1344-89_1344-88insAAA
XM_005258278.5:c.1809-89_1809-88insAAA	XP_005258335.1:n.1809-89_1809-88insAAA
XM_005258279.2:c.1758-89_1758-88insAAA	XP_005258336.1:n.1758-89_1758-88insAAA
XM_006722479.3:c.1809-89_1809-88insAAA	XP_006722542.1:n.1809-89_1809-88insAAA
XM_017025784.1:c.1809-89_1809-88insAAA	XP_016881273.1:n.1809-89_1809-88insAAA
XM_017025785.1:c.1809-89_1809-88insAAA	XP_016881274.1:n.1809-89_1809-88insAAA
XM_017025786.1:c.1758-89_1758-88insAAA	XP_016881275.1:n.1758-89_1758-88insAAA
XM_017025787.1:c.1758-89_1758-88insAAA	XP_016881276.1:n.1758-89_1758-88insAAA
NM_000271.5:c.1758-89_1758-88insAAA MANE Select	NP_000262.2:n.1758-89_1758-88insAAA