Canonical Allele Identifier: CA2290163951

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535695_23535697delinsAAC , CM000680.2:g.23535695_23535697delinsAAC	GRCh38
NC_000018.9:g.21115659_21115661delinsAAC , CM000680.1:g.21115659_21115661delinsAAC	GRCh37
NC_000018.8:g.19369657_19369659delinsAAC	NCBI36
NG_012795.1:g.55921_55923delinsGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3249_3251delinsGTT MANE Select	ENSP00000269228.4:p.Val1083=
ENST00000269228.9:c.3249_3251delinsGTT	ENSP00000269228.4:p.Val1083=
ENST00000586150.5:c.4_6delinsGTT
ENST00000588867.1:n.4_6delinsGTT
ENST00000591051.1:c.2327_2329delinsGTT
NM_000271.4:c.3249_3251delinsGTT	NP_000262.2:p.Val1083=
XM_005258277.1:c.3300_3302delinsGTT	XP_005258334.1:p.Val1100=
XM_005258278.3:c.3300_3302delinsGTT	XP_005258335.1:p.Val1100=
XM_005258279.1:c.3249_3251delinsGTT	XP_005258336.1:p.Val1083=
XM_006722479.2:c.3300_3302delinsGTT	XP_006722542.1:p.Val1100=
XM_011526015.1:c.2835_2837delinsGTT	XP_011524317.1:p.Val945=
XM_005258278.5:c.3300_3302delinsGTT	XP_005258335.1:p.Val1100=
XM_005258279.2:c.3249_3251delinsGTT	XP_005258336.1:p.Val1083=
XM_006722479.3:c.3300_3302delinsGTT	XP_006722542.1:p.Val1100=
XM_017025784.1:c.3300_3302delinsGTT	XP_016881273.1:p.Val1100=
XM_017025785.1:c.3300_3302delinsGTT	XP_016881274.1:p.Val1100=
XM_017025786.1:c.3249_3251delinsGTT	XP_016881275.1:p.Val1083=
XM_017025787.1:c.3249_3251delinsGTT	XP_016881276.1:p.Val1083=
NM_000271.5:c.3249_3251delinsGTT MANE Select	NP_000262.2:p.Val1083=