Canonical Allele Identifier: CA777715380

Gene: NPC1

Linked Data

• dbSNP Id: rs1259202015
• gnomAD v3: 18-23534975-T-TA
• gnomAD v4: 18-23534975-T-TA
• MyVariant Identifiers: chr18:g.21114939_21114940insA (hg19) ; chr18:g.23534975_23534976insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534979dup , CM000680.2:g.23534979dup	GRCh38
NC_000018.9:g.21114943dup , CM000680.1:g.21114943dup	GRCh37
NC_000018.8:g.19368941dup	NCBI36
NG_012795.1:g.56642dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3478-417dup MANE Select	ENSP00000269228.4:n.3478-417dup
ENST00000269228.9:c.3478-417dup	ENSP00000269228.4:n.3478-417dup
ENST00000586150.5:c.233-417dup
ENST00000588867.1:n.233-417dup
ENST00000591051.1:c.2556-417dup
ENST00000591107.6:c.155-417dup
NM_000271.4:c.3478-417dup	NP_000262.2:n.3478-417dup
XM_005258277.1:c.3529-417dup	XP_005258334.1:n.3529-417dup
XM_005258278.3:c.3529-417dup	XP_005258335.1:n.3529-417dup
XM_005258279.1:c.3478-417dup	XP_005258336.1:n.3478-417dup
XM_006722479.2:c.3529-417dup	XP_006722542.1:n.3529-417dup
XM_011526015.1:c.3064-417dup	XP_011524317.1:n.3064-417dup
XM_005258278.5:c.3529-417dup	XP_005258335.1:n.3529-417dup
XM_005258279.2:c.3478-417dup	XP_005258336.1:n.3478-417dup
XM_006722479.3:c.3529-417dup	XP_006722542.1:n.3529-417dup
XM_017025784.1:c.3529-417dup	XP_016881273.1:n.3529-417dup
XM_017025785.1:c.3529-417dup	XP_016881274.1:n.3529-417dup
XM_017025786.1:c.3478-417dup	XP_016881275.1:n.3478-417dup
XM_017025787.1:c.3478-417dup	XP_016881276.1:n.3478-417dup
NM_000271.5:c.3478-417dup MANE Select	NP_000262.2:n.3478-417dup