Canonical Allele Identifier: CA2290165680

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539297_23539300delinsAATG , CM000680.2:g.23539297_23539300delinsAATG	GRCh38
NC_000018.9:g.21119261_21119264delinsAATG , CM000680.1:g.21119261_21119264delinsAATG	GRCh37
NC_000018.8:g.19373259_19373262delinsAATG	NCBI36
NG_012795.1:g.52318_52321delinsCATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2911+55_2911+58delinsCATT MANE Select	ENSP00000269228.4:n.2911+55_2911+58delins...
ENST00000269228.9:c.2911+55_2911+58delinsCATT	ENSP00000269228.4:n.2911+55_2911+58delins...
ENST00000591051.1:c.1989+55_1989+58delinsCATT
ENST00000591075.1:n.544+55_544+58delinsCATT
NM_000271.4:c.2911+55_2911+58delinsCATT	NP_000262.2:n.2911+55_2911+58delinsCATT
XM_005258277.1:c.2962+55_2962+58delinsCATT	XP_005258334.1:n.2962+55_2962+58delinsCAT...
XM_005258278.3:c.2962+55_2962+58delinsCATT	XP_005258335.1:n.2962+55_2962+58delinsCAT...
XM_005258279.1:c.2911+55_2911+58delinsCATT	XP_005258336.1:n.2911+55_2911+58delinsCAT...
XM_006722479.2:c.2962+55_2962+58delinsCATT	XP_006722542.1:n.2962+55_2962+58delinsCAT...
XM_011526015.1:c.2497+55_2497+58delinsCATT	XP_011524317.1:n.2497+55_2497+58delinsCAT...
XM_005258278.5:c.2962+55_2962+58delinsCATT	XP_005258335.1:n.2962+55_2962+58delinsCAT...
XM_005258279.2:c.2911+55_2911+58delinsCATT	XP_005258336.1:n.2911+55_2911+58delinsCAT...
XM_006722479.3:c.2962+55_2962+58delinsCATT	XP_006722542.1:n.2962+55_2962+58delinsCAT...
XM_017025784.1:c.2962+55_2962+58delinsCATT	XP_016881273.1:n.2962+55_2962+58delinsCAT...
XM_017025785.1:c.2962+55_2962+58delinsCATT	XP_016881274.1:n.2962+55_2962+58delinsCAT...
XM_017025786.1:c.2911+55_2911+58delinsCATT	XP_016881275.1:n.2911+55_2911+58delinsCAT...
XM_017025787.1:c.2911+55_2911+58delinsCATT	XP_016881276.1:n.2911+55_2911+58delinsCAT...
NM_000271.5:c.2911+55_2911+58delinsCATT MANE Select	NP_000262.2:n.2911+55_2911+58delinsCATT