Canonical Allele Identifier: CA2290175782

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560501_23560502delinsGA , CM000680.2:g.23560501_23560502delinsGA	GRCh38
NC_000018.9:g.21140465_21140466delinsGA , CM000680.1:g.21140465_21140466delinsGA	GRCh37
NC_000018.8:g.19394463_19394464delinsGA	NCBI36
NG_012795.1:g.31116_31117delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.632-22_632-21delinsTC MANE Select	ENSP00000269228.4:n.632-22_632-21delinsTC
ENST00000269228.9:c.632-22_632-21delinsTC	ENSP00000269228.4:n.632-22_632-21delinsTC
ENST00000540608.5:n.546-22_546-21delinsTC
NM_000271.4:c.632-22_632-21delinsTC	NP_000262.2:n.632-22_632-21delinsTC
XM_005258277.1:c.632-22_632-21delinsTC	XP_005258334.1:n.632-22_632-21delinsTC
XM_005258278.3:c.632-22_632-21delinsTC	XP_005258335.1:n.632-22_632-21delinsTC
XM_005258279.1:c.632-22_632-21delinsTC	XP_005258336.1:n.632-22_632-21delinsTC
XM_006722479.2:c.632-22_632-21delinsTC	XP_006722542.1:n.632-22_632-21delinsTC
XM_011526015.1:c.167-22_167-21delinsTC	XP_011524317.1:n.167-22_167-21delinsTC
XM_005258278.5:c.632-22_632-21delinsTC	XP_005258335.1:n.632-22_632-21delinsTC
XM_005258279.2:c.632-22_632-21delinsTC	XP_005258336.1:n.632-22_632-21delinsTC
XM_006722479.3:c.632-22_632-21delinsTC	XP_006722542.1:n.632-22_632-21delinsTC
XM_017025784.1:c.632-22_632-21delinsTC	XP_016881273.1:n.632-22_632-21delinsTC
XM_017025785.1:c.632-22_632-21delinsTC	XP_016881274.1:n.632-22_632-21delinsTC
XM_017025786.1:c.632-22_632-21delinsTC	XP_016881275.1:n.632-22_632-21delinsTC
XM_017025787.1:c.632-22_632-21delinsTC	XP_016881276.1:n.632-22_632-21delinsTC
NM_000271.5:c.632-22_632-21delinsTC MANE Select	NP_000262.2:n.632-22_632-21delinsTC