Canonical Allele Identifier: CA8913494

Gene: NPC1

Linked Data

• dbSNP Id: rs747919028
• ExAC: 18:21136159 A / AGGG
• gnomAD v2: 18-21136159-A-AGGG
• gnomAD v3: 18-23556195-A-AGGG
• gnomAD v4: 18-23556195-A-AGGG
• MyVariant Identifiers: chr18:g.21136159_21136160insGGG (hg19) ; chr18:g.23556195_23556196insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556195_23556196insGGG , CM000680.2:g.23556195_23556196insGGG	GRCh38
NC_000018.9:g.21136159_21136160insGGG , CM000680.1:g.21136159_21136160insGGG	GRCh37
NC_000018.8:g.19390157_19390158insGGG	NCBI36
NG_012795.1:g.35422_35423insCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1326+47_1326+48insCCC MANE Select	ENSP00000269228.4:n.1326+47_1326+48insCCC...
ENST00000269228.9:c.1326+47_1326+48insCCC	ENSP00000269228.4:n.1326+47_1326+48insCCC...
ENST00000540608.5:n.1240+47_1240+48insCCC
ENST00000591051.1:c.608+47_608+48insCCC
NM_000271.4:c.1326+47_1326+48insCCC	NP_000262.2:n.1326+47_1326+48insCCC
XM_005258277.1:c.1377+47_1377+48insCCC	XP_005258334.1:n.1377+47_1377+48insCCC
XM_005258278.3:c.1377+47_1377+48insCCC	XP_005258335.1:n.1377+47_1377+48insCCC
XM_005258279.1:c.1326+47_1326+48insCCC	XP_005258336.1:n.1326+47_1326+48insCCC
XM_006722479.2:c.1377+47_1377+48insCCC	XP_006722542.1:n.1377+47_1377+48insCCC
XM_011526015.1:c.912+47_912+48insCCC	XP_011524317.1:n.912+47_912+48insCCC
XM_005258278.5:c.1377+47_1377+48insCCC	XP_005258335.1:n.1377+47_1377+48insCCC
XM_005258279.2:c.1326+47_1326+48insCCC	XP_005258336.1:n.1326+47_1326+48insCCC
XM_006722479.3:c.1377+47_1377+48insCCC	XP_006722542.1:n.1377+47_1377+48insCCC
XM_017025784.1:c.1377+47_1377+48insCCC	XP_016881273.1:n.1377+47_1377+48insCCC
XM_017025785.1:c.1377+47_1377+48insCCC	XP_016881274.1:n.1377+47_1377+48insCCC
XM_017025786.1:c.1326+47_1326+48insCCC	XP_016881275.1:n.1326+47_1326+48insCCC
XM_017025787.1:c.1326+47_1326+48insCCC	XP_016881276.1:n.1326+47_1326+48insCCC
NM_000271.5:c.1326+47_1326+48insCCC MANE Select	NP_000262.2:n.1326+47_1326+48insCCC