Canonical Allele Identifier: CA2695227435

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538609_23538610insT , CM000680.2:g.23538609_23538610insT	GRCh38
NC_000018.9:g.21118573_21118574insT , CM000680.1:g.21118573_21118574insT	GRCh37
NC_000018.8:g.19372571_19372572insT	NCBI36
NG_012795.1:g.53008_53009insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2973_2974insA MANE Select	ENSP00000269228.4:p.Gly992ArgfsTer15
ENST00000269228.9:c.2973_2974insA	ENSP00000269228.4:p.Gly992ArgfsTer15
ENST00000591051.1:c.2051_2052insA
ENST00000591075.1:n.606_607insA
ENST00000591955.1:n.316_317insA
NM_000271.4:c.2973_2974insA	NP_000262.2:p.Gly992ArgfsTer15
XM_005258277.1:c.3024_3025insA	XP_005258334.1:p.Gly1009ArgfsTer15
XM_005258278.3:c.3024_3025insA	XP_005258335.1:p.Gly1009ArgfsTer15
XM_005258279.1:c.2973_2974insA	XP_005258336.1:p.Gly992ArgfsTer15
XM_006722479.2:c.3024_3025insA	XP_006722542.1:p.Gly1009ArgfsTer15
XM_011526015.1:c.2559_2560insA	XP_011524317.1:p.Gly854ArgfsTer15
XM_005258278.5:c.3024_3025insA	XP_005258335.1:p.Gly1009ArgfsTer15
XM_005258279.2:c.2973_2974insA	XP_005258336.1:p.Gly992ArgfsTer15
XM_006722479.3:c.3024_3025insA	XP_006722542.1:p.Gly1009ArgfsTer15
XM_017025784.1:c.3024_3025insA	XP_016881273.1:p.Gly1009ArgfsTer15
XM_017025785.1:c.3024_3025insA	XP_016881274.1:p.Gly1009ArgfsTer15
XM_017025786.1:c.2973_2974insA	XP_016881275.1:p.Gly992ArgfsTer15
XM_017025787.1:c.2973_2974insA	XP_016881276.1:p.Gly992ArgfsTer15
NM_000271.5:c.2973_2974insA MANE Select	NP_000262.2:p.Gly992ArgfsTer15