Canonical Allele Identifier: CA2290165819

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539582_23539588delinsCAAAAGA , CM000680.2:g.23539582_23539588delinsCAAAAGA	GRCh38
NC_000018.9:g.21119546_21119552delinsCAAAAGA , CM000680.1:g.21119546_21119552delinsCAAAAGA	GRCh37
NC_000018.8:g.19373544_19373550delinsCAAAAGA	NCBI36
NG_012795.1:g.52030_52036delinsTCTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2796-118_2796-112delinsTCTTTTG MANE Select	ENSP00000269228.4:n.2796-118_2796-112delinsTCTTTTG
ENST00000269228.9:c.2796-118_2796-112delinsTCTTTTG	ENSP00000269228.4:n.2796-118_2796-112delinsTCTTTTG
ENST00000591051.1:c.1874-118_1874-112delinsTCTTTTG
ENST00000591075.1:n.311_317delinsTCTTTTG
NM_000271.4:c.2796-118_2796-112delinsTCTTTTG	NP_000262.2:n.2796-118_2796-112delinsTCTTTTG
XM_005258277.1:c.2847-118_2847-112delinsTCTTTTG	XP_005258334.1:n.2847-118_2847-112delinsTCTTTTG
XM_005258278.3:c.2847-118_2847-112delinsTCTTTTG	XP_005258335.1:n.2847-118_2847-112delinsTCTTTTG
XM_005258279.1:c.2796-118_2796-112delinsTCTTTTG	XP_005258336.1:n.2796-118_2796-112delinsTCTTTTG
XM_006722479.2:c.2847-118_2847-112delinsTCTTTTG	XP_006722542.1:n.2847-118_2847-112delinsTCTTTTG
XM_011526015.1:c.2382-118_2382-112delinsTCTTTTG	XP_011524317.1:n.2382-118_2382-112delinsTCTTTTG
XM_005258278.5:c.2847-118_2847-112delinsTCTTTTG	XP_005258335.1:n.2847-118_2847-112delinsTCTTTTG
XM_005258279.2:c.2796-118_2796-112delinsTCTTTTG	XP_005258336.1:n.2796-118_2796-112delinsTCTTTTG
XM_006722479.3:c.2847-118_2847-112delinsTCTTTTG	XP_006722542.1:n.2847-118_2847-112delinsTCTTTTG
XM_017025784.1:c.2847-118_2847-112delinsTCTTTTG	XP_016881273.1:n.2847-118_2847-112delinsTCTTTTG
XM_017025785.1:c.2847-118_2847-112delinsTCTTTTG	XP_016881274.1:n.2847-118_2847-112delinsTCTTTTG
XM_017025786.1:c.2796-118_2796-112delinsTCTTTTG	XP_016881275.1:n.2796-118_2796-112delinsTCTTTTG
XM_017025787.1:c.2796-118_2796-112delinsTCTTTTG	XP_016881276.1:n.2796-118_2796-112delinsTCTTTTG
NM_000271.5:c.2796-118_2796-112delinsTCTTTTG MANE Select	NP_000262.2:n.2796-118_2796-112delinsTCTTTTG