Canonical Allele Identifier: CA777727385

Gene: NPC1

Linked Data

• dbSNP Id: rs1278277840
• gnomAD v3: 18-23568780-C-CATCAAA
• gnomAD v4: 18-23568780-C-CATCAAA
• MyVariant Identifiers: chr18:g.21148744_21148745insATCAAA (hg19) ; chr18:g.23568780_23568781insATCAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568780_23568781insATCAAA , CM000680.2:g.23568780_23568781insATCAAA	GRCh38
NC_000018.9:g.21148744_21148745insATCAAA , CM000680.1:g.21148744_21148745insATCAAA	GRCh37
NC_000018.8:g.19402742_19402743insATCAAA	NCBI36
NG_012795.1:g.22837_22838insTTTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.463+42_463+43insTTTGAT MANE Select	ENSP00000269228.4:n.463+42_463+43insTTTGAT
ENST00000269228.9:c.463+42_463+43insTTTGAT	ENSP00000269228.4:n.463+42_463+43insTTTGAT
ENST00000540608.5:n.377+42_377+43insTTTGAT
NM_000271.4:c.463+42_463+43insTTTGAT	NP_000262.2:n.463+42_463+43insTTTGAT
XM_005258277.1:c.463+42_463+43insTTTGAT	XP_005258334.1:n.463+42_463+43insTTTGAT
XM_005258278.3:c.463+42_463+43insTTTGAT	XP_005258335.1:n.463+42_463+43insTTTGAT
XM_005258279.1:c.463+42_463+43insTTTGAT	XP_005258336.1:n.463+42_463+43insTTTGAT
XM_006722479.2:c.463+42_463+43insTTTGAT	XP_006722542.1:n.463+42_463+43insTTTGAT
XM_011526015.1:c.-3+42_-3+43insTTTGAT	XP_011524317.1:n.-3+42_-3+43insTTTGAT
XM_005258278.5:c.463+42_463+43insTTTGAT	XP_005258335.1:n.463+42_463+43insTTTGAT
XM_005258279.2:c.463+42_463+43insTTTGAT	XP_005258336.1:n.463+42_463+43insTTTGAT
XM_006722479.3:c.463+42_463+43insTTTGAT	XP_006722542.1:n.463+42_463+43insTTTGAT
XM_017025784.1:c.463+42_463+43insTTTGAT	XP_016881273.1:n.463+42_463+43insTTTGAT
XM_017025785.1:c.463+42_463+43insTTTGAT	XP_016881274.1:n.463+42_463+43insTTTGAT
XM_017025786.1:c.463+42_463+43insTTTGAT	XP_016881275.1:n.463+42_463+43insTTTGAT
XM_017025787.1:c.463+42_463+43insTTTGAT	XP_016881276.1:n.463+42_463+43insTTTGAT
NM_000271.5:c.463+42_463+43insTTTGAT MANE Select	NP_000262.2:n.463+42_463+43insTTTGAT