Canonical Allele Identifier: CA297079008

Gene: NPC1

Linked Data

• dbSNP Id: rs149144072
• gnomAD v2: 18-21115248-C-CTA
• gnomAD v3: 18-23535284-C-CTA
• gnomAD v4: 18-23535284-C-CTA
• MyVariant Identifiers: chr18:g.21115248_21115249insTA (hg19) ; chr18:g.23535284_23535285insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535286_23535287dup , CM000680.2:g.23535286_23535287dup	GRCh38
NC_000018.9:g.21115250_21115251dup , CM000680.1:g.21115250_21115251dup	GRCh37
NC_000018.8:g.19369248_19369249dup	NCBI36
NG_012795.1:g.56332_56333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3477+183_3477+184dup MANE Select	ENSP00000269228.4:n.3477+183_3477+184dup
ENST00000269228.9:c.3477+183_3477+184dup	ENSP00000269228.4:n.3477+183_3477+184dup
ENST00000586150.5:c.232+183_232+184dup
ENST00000588867.1:n.232+183_232+184dup
ENST00000591051.1:c.2555+183_2555+184dup
ENST00000591107.6:c.154+183_154+184dup
NM_000271.4:c.3477+183_3477+184dup	NP_000262.2:n.3477+183_3477+184dup
XM_005258277.1:c.3528+183_3528+184dup	XP_005258334.1:n.3528+183_3528+184dup
XM_005258278.3:c.3528+183_3528+184dup	XP_005258335.1:n.3528+183_3528+184dup
XM_005258279.1:c.3477+183_3477+184dup	XP_005258336.1:n.3477+183_3477+184dup
XM_006722479.2:c.3528+183_3528+184dup	XP_006722542.1:n.3528+183_3528+184dup
XM_011526015.1:c.3063+183_3063+184dup	XP_011524317.1:n.3063+183_3063+184dup
XM_005258278.5:c.3528+183_3528+184dup	XP_005258335.1:n.3528+183_3528+184dup
XM_005258279.2:c.3477+183_3477+184dup	XP_005258336.1:n.3477+183_3477+184dup
XM_006722479.3:c.3528+183_3528+184dup	XP_006722542.1:n.3528+183_3528+184dup
XM_017025784.1:c.3528+183_3528+184dup	XP_016881273.1:n.3528+183_3528+184dup
XM_017025785.1:c.3528+183_3528+184dup	XP_016881274.1:n.3528+183_3528+184dup
XM_017025786.1:c.3477+183_3477+184dup	XP_016881275.1:n.3477+183_3477+184dup
XM_017025787.1:c.3477+183_3477+184dup	XP_016881276.1:n.3477+183_3477+184dup
NM_000271.5:c.3477+183_3477+184dup MANE Select	NP_000262.2:n.3477+183_3477+184dup