Canonical Allele Identifier: CA2290165926

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539857_23539860delinsCATT , CM000680.2:g.23539857_23539860delinsCATT	GRCh38
NC_000018.9:g.21119821_21119824delinsCATT , CM000680.1:g.21119821_21119824delinsCATT	GRCh37
NC_000018.8:g.19373819_19373822delinsCATT	NCBI36
NG_012795.1:g.51758_51761delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2746_2749delinsAATG MANE Select	ENSP00000269228.4:p.Asn916=
ENST00000269228.9:c.2746_2749delinsAATG	ENSP00000269228.4:p.Asn916=
ENST00000540608.5:n.2660_2663delinsAATG
ENST00000586718.1:n.537_540delinsAATG
ENST00000591051.1:c.1824_1827delinsAATG
ENST00000591075.1:n.39_42delinsAATG
NM_000271.4:c.2746_2749delinsAATG	NP_000262.2:p.Asn916=
XM_005258277.1:c.2797_2800delinsAATG	XP_005258334.1:p.Asn933=
XM_005258278.3:c.2797_2800delinsAATG	XP_005258335.1:p.Asn933=
XM_005258279.1:c.2746_2749delinsAATG	XP_005258336.1:p.Asn916=
XM_006722479.2:c.2797_2800delinsAATG	XP_006722542.1:p.Asn933=
XM_011526015.1:c.2332_2335delinsAATG	XP_011524317.1:p.Asn778=
XM_005258278.5:c.2797_2800delinsAATG	XP_005258335.1:p.Asn933=
XM_005258279.2:c.2746_2749delinsAATG	XP_005258336.1:p.Asn916=
XM_006722479.3:c.2797_2800delinsAATG	XP_006722542.1:p.Asn933=
XM_017025784.1:c.2797_2800delinsAATG	XP_016881273.1:p.Asn933=
XM_017025785.1:c.2797_2800delinsAATG	XP_016881274.1:p.Asn933=
XM_017025786.1:c.2746_2749delinsAATG	XP_016881275.1:p.Asn916=
XM_017025787.1:c.2746_2749delinsAATG	XP_016881276.1:p.Asn916=
NM_000271.5:c.2746_2749delinsAATG MANE Select	NP_000262.2:p.Asn916=