Canonical Allele Identifier: CA2290165798

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539542_23539547delinsAAACCT , CM000680.2:g.23539542_23539547delinsAAACCT	GRCh38
NC_000018.9:g.21119506_21119511delinsAAACCT , CM000680.1:g.21119506_21119511delinsAAACCT	GRCh37
NC_000018.8:g.19373504_19373509delinsAAACCT	NCBI36
NG_012795.1:g.52071_52076delinsAGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2796-77_2796-72delinsAGGTTT MANE Select	ENSP00000269228.4:n.2796-77_2796-72delinsAGGTTT
ENST00000269228.9:c.2796-77_2796-72delinsAGGTTT	ENSP00000269228.4:n.2796-77_2796-72delinsAGGTTT
ENST00000591051.1:c.1874-77_1874-72delinsAGGTTT
ENST00000591075.1:n.352_357delinsAGGTTT
NM_000271.4:c.2796-77_2796-72delinsAGGTTT	NP_000262.2:n.2796-77_2796-72delinsAGGTTT
XM_005258277.1:c.2847-77_2847-72delinsAGGTTT	XP_005258334.1:n.2847-77_2847-72delinsAGGTTT
XM_005258278.3:c.2847-77_2847-72delinsAGGTTT	XP_005258335.1:n.2847-77_2847-72delinsAGGTTT
XM_005258279.1:c.2796-77_2796-72delinsAGGTTT	XP_005258336.1:n.2796-77_2796-72delinsAGGTTT
XM_006722479.2:c.2847-77_2847-72delinsAGGTTT	XP_006722542.1:n.2847-77_2847-72delinsAGGTTT
XM_011526015.1:c.2382-77_2382-72delinsAGGTTT	XP_011524317.1:n.2382-77_2382-72delinsAGGTTT
XM_005258278.5:c.2847-77_2847-72delinsAGGTTT	XP_005258335.1:n.2847-77_2847-72delinsAGGTTT
XM_005258279.2:c.2796-77_2796-72delinsAGGTTT	XP_005258336.1:n.2796-77_2796-72delinsAGGTTT
XM_006722479.3:c.2847-77_2847-72delinsAGGTTT	XP_006722542.1:n.2847-77_2847-72delinsAGGTTT
XM_017025784.1:c.2847-77_2847-72delinsAGGTTT	XP_016881273.1:n.2847-77_2847-72delinsAGGTTT
XM_017025785.1:c.2847-77_2847-72delinsAGGTTT	XP_016881274.1:n.2847-77_2847-72delinsAGGTTT
XM_017025786.1:c.2796-77_2796-72delinsAGGTTT	XP_016881275.1:n.2796-77_2796-72delinsAGGTTT
XM_017025787.1:c.2796-77_2796-72delinsAGGTTT	XP_016881276.1:n.2796-77_2796-72delinsAGGTTT
NM_000271.5:c.2796-77_2796-72delinsAGGTTT MANE Select	NP_000262.2:n.2796-77_2796-72delinsAGGTTT