Canonical Allele Identifier: CA2290163900

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535592_23535593delinsGC , CM000680.2:g.23535592_23535593delinsGC	GRCh38
NC_000018.9:g.21115556_21115557delinsGC , CM000680.1:g.21115556_21115557delinsGC	GRCh37
NC_000018.8:g.19369554_19369555delinsGC	NCBI36
NG_012795.1:g.56025_56026delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3353_3354delinsGC MANE Select	ENSP00000269228.4:p.Gly1118=
ENST00000269228.9:c.3353_3354delinsGC	ENSP00000269228.4:p.Gly1118=
ENST00000586150.5:c.108_109delinsGC
ENST00000588867.1:n.108_109delinsGC
ENST00000591051.1:c.2431_2432delinsGC
ENST00000591107.6:c.30_31delinsGC
NM_000271.4:c.3353_3354delinsGC	NP_000262.2:p.Gly1118=
XM_005258277.1:c.3404_3405delinsGC	XP_005258334.1:p.Gly1135=
XM_005258278.3:c.3404_3405delinsGC	XP_005258335.1:p.Gly1135=
XM_005258279.1:c.3353_3354delinsGC	XP_005258336.1:p.Gly1118=
XM_006722479.2:c.3404_3405delinsGC	XP_006722542.1:p.Gly1135=
XM_011526015.1:c.2939_2940delinsGC	XP_011524317.1:p.Gly980=
XM_005258278.5:c.3404_3405delinsGC	XP_005258335.1:p.Gly1135=
XM_005258279.2:c.3353_3354delinsGC	XP_005258336.1:p.Gly1118=
XM_006722479.3:c.3404_3405delinsGC	XP_006722542.1:p.Gly1135=
XM_017025784.1:c.3404_3405delinsGC	XP_016881273.1:p.Gly1135=
XM_017025785.1:c.3404_3405delinsGC	XP_016881274.1:p.Gly1135=
XM_017025786.1:c.3353_3354delinsGC	XP_016881275.1:p.Gly1118=
XM_017025787.1:c.3353_3354delinsGC	XP_016881276.1:p.Gly1118=
NM_000271.5:c.3353_3354delinsGC MANE Select	NP_000262.2:p.Gly1118=