Canonical Allele Identifier: CA2290163617

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535052_23535053delinsTA , CM000680.2:g.23535052_23535053delinsTA	GRCh38
NC_000018.9:g.21115016_21115017delinsTA , CM000680.1:g.21115016_21115017delinsTA	GRCh37
NC_000018.8:g.19369014_19369015delinsTA	NCBI36
NG_012795.1:g.56565_56566delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3477+416_3477+417delinsTA MANE Select	ENSP00000269228.4:n.3477+416_3477+417deli...
ENST00000269228.9:c.3477+416_3477+417delinsTA	ENSP00000269228.4:n.3477+416_3477+417deli...
ENST00000586150.5:c.232+416_232+417delinsTA
ENST00000588867.1:n.232+416_232+417delinsTA
ENST00000591051.1:c.2555+416_2555+417delinsTA
ENST00000591107.6:c.154+416_154+417delinsTA
NM_000271.4:c.3477+416_3477+417delinsTA	NP_000262.2:n.3477+416_3477+417delinsTA
XM_005258277.1:c.3528+416_3528+417delinsTA	XP_005258334.1:n.3528+416_3528+417delinsT...
XM_005258278.3:c.3528+416_3528+417delinsTA	XP_005258335.1:n.3528+416_3528+417delinsT...
XM_005258279.1:c.3477+416_3477+417delinsTA	XP_005258336.1:n.3477+416_3477+417delinsT...
XM_006722479.2:c.3528+416_3528+417delinsTA	XP_006722542.1:n.3528+416_3528+417delinsT...
XM_011526015.1:c.3063+416_3063+417delinsTA	XP_011524317.1:n.3063+416_3063+417delinsT...
XM_005258278.5:c.3528+416_3528+417delinsTA	XP_005258335.1:n.3528+416_3528+417delinsT...
XM_005258279.2:c.3477+416_3477+417delinsTA	XP_005258336.1:n.3477+416_3477+417delinsT...
XM_006722479.3:c.3528+416_3528+417delinsTA	XP_006722542.1:n.3528+416_3528+417delinsT...
XM_017025784.1:c.3528+416_3528+417delinsTA	XP_016881273.1:n.3528+416_3528+417delinsT...
XM_017025785.1:c.3528+416_3528+417delinsTA	XP_016881274.1:n.3528+416_3528+417delinsT...
XM_017025786.1:c.3477+416_3477+417delinsTA	XP_016881275.1:n.3477+416_3477+417delinsT...
XM_017025787.1:c.3477+416_3477+417delinsTA	XP_016881276.1:n.3477+416_3477+417delinsT...
NM_000271.5:c.3477+416_3477+417delinsTA MANE Select	NP_000262.2:n.3477+416_3477+417delinsTA