Canonical Allele Identifier: CA3268250795

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533377_23533378delinsAG , CM000680.2:g.23533377_23533378delinsAG	GRCh38
NC_000018.9:g.21113341_21113342delinsAG , CM000680.1:g.21113341_21113342delinsAG	GRCh37
NC_000018.8:g.19367339_19367340delinsAG	NCBI36
NG_012795.1:g.58240_58241delinsCT
NG_033119.1:g.34908_34909delinsAG

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3731_3732delinsCT MANE Select	NP_000262.2:p.Leu1244Pro
ENST00000269228.10:c.3731_3732delinsCT MANE Select	ENSP00000269228.4:p.Leu1244Pro
NM_000271.4:c.3731_3732delinsCT	NP_000262.2:p.Leu1244Pro
ENST00000269228.9:c.3731_3732delinsCT	ENSP00000269228.4:p.Leu1244Pro
ENST00000586150.5:c.486_487delinsCT
ENST00000587163.1:n.255_256delinsCT
ENST00000588867.1:n.1414_1415delinsCT
ENST00000590723.5:c.140_141delinsCT	ENSP00000464755.1:p.Leu47Pro
ENST00000591051.1:c.2809_2810delinsCT
ENST00000591107.6:c.408_409delinsCT
ENST00000593280.2:c.63_64delinsCT
XM_005258277.1:c.3782_3783delinsCT	XP_005258334.1:p.Leu1261Pro
XM_005258278.3:c.3782_3783delinsCT	XP_005258335.1:p.Leu1261Pro
XM_005258278.5:c.3782_3783delinsCT	XP_005258335.1:p.Leu1261Pro
XM_005258279.1:c.3731_3732delinsCT	XP_005258336.1:p.Leu1244Pro
XM_005258279.2:c.3731_3732delinsCT	XP_005258336.1:p.Leu1244Pro
XM_006722479.2:c.3782_3783delinsCT	XP_006722542.1:p.Leu1261Pro
XM_006722479.3:c.3782_3783delinsCT	XP_006722542.1:p.Leu1261Pro
XM_011526015.1:c.3317_3318delinsCT	XP_011524317.1:p.Leu1106Pro
XM_017025784.1:c.3782_3783delinsCT	XP_016881273.1:p.Leu1261Pro
XM_017025785.1:c.3782_3783delinsCT	XP_016881274.1:p.Leu1261Pro
XM_017025786.1:c.3731_3732delinsCT	XP_016881275.1:p.Leu1244Pro
XM_017025787.1:c.3731_3732delinsCT	XP_016881276.1:p.Leu1244Pro