Canonical Allele Identifier: CA2290162132

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532266_23532270delinsGCTTT , CM000680.2:g.23532266_23532270delinsGCTTT	GRCh38
NC_000018.9:g.21112230_21112234delinsGCTTT , CM000680.1:g.21112230_21112234delinsGCTTT	GRCh37
NC_000018.8:g.19366228_19366232delinsGCTTT	NCBI36
NG_012795.1:g.59348_59352delinsAAAGC
NG_033119.1:g.33797_33801delinsGCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3769_3773delinsAAAGC MANE Select	ENSP00000269228.4:p.Lys1257=
ENST00000269228.9:c.3769_3773delinsAAAGC	ENSP00000269228.4:p.Lys1257=
ENST00000586150.5:c.509+1085_509+1089delinsAAAGC
ENST00000588867.1:n.1452_1456delinsAAAGC
ENST00000590723.5:c.163+1085_163+1089delinsAAAGC	ENSP00000464755.1:n.163+1085_163+1089delinsAAAGC
ENST00000591051.1:c.2847_2851delinsAAAGC
ENST00000591107.6:c.431+1085_431+1089delinsAAAGC
ENST00000593280.2:c.86+1085_86+1089delinsAAAGC
NM_000271.4:c.3769_3773delinsAAAGC	NP_000262.2:p.Lys1257=
XM_005258277.1:c.3805+1085_3805+1089delinsAAAGC	XP_005258334.1:n.3805+1085_3805+1089delinsAAAGC
XM_005258278.3:c.3820_3824delinsAAAGC	XP_005258335.1:p.Lys1274=
XM_005258279.1:c.3754+1085_3754+1089delinsAAAGC	XP_005258336.1:n.3754+1085_3754+1089delinsAAAGC
XM_006722479.2:c.3805+1085_3805+1089delinsAAAGC	XP_006722542.1:n.3805+1085_3805+1089delinsAAAGC
XM_011526015.1:c.3340+1085_3340+1089delinsAAAGC	XP_011524317.1:n.3340+1085_3340+1089delinsAAAGC
XM_005258278.5:c.3820_3824delinsAAAGC	XP_005258335.1:p.Lys1274=
XM_005258279.2:c.3754+1085_3754+1089delinsAAAGC	XP_005258336.1:n.3754+1085_3754+1089delinsAAAGC
XM_006722479.3:c.3805+1085_3805+1089delinsAAAGC	XP_006722542.1:n.3805+1085_3805+1089delinsAAAGC
XM_017025784.1:c.3805+1085_3805+1089delinsAAAGC	XP_016881273.1:n.3805+1085_3805+1089delinsAAAGC
XM_017025785.1:c.3805+1085_3805+1089delinsAAAGC	XP_016881274.1:n.3805+1085_3805+1089delinsAAAGC
XM_017025786.1:c.3754+1085_3754+1089delinsAAAGC	XP_016881275.1:n.3754+1085_3754+1089delinsAAAGC
XM_017025787.1:c.3754+1085_3754+1089delinsAAAGC	XP_016881276.1:n.3754+1085_3754+1089delinsAAAGC
NM_000271.5:c.3769_3773delinsAAAGC MANE Select	NP_000262.2:p.Lys1257=