Canonical Allele Identifier: CA2734658487

Gene: NPC1

Linked Data

• dbSNP Id: rs2145367220

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538674_23538675insAAGCATT , CM000680.2:g.23538674_23538675insAAGCATT	GRCh38
NC_000018.9:g.21118638_21118639insAAGCATT , CM000680.1:g.21118638_21118639insAAGCATT	GRCh37
NC_000018.8:g.19372636_19372637insAAGCATT	NCBI36
NG_012795.1:g.52943_52944insAATGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2912-4_2912-3insAATGCTT MANE Select	ENSP00000269228.4:n.2912-4_2912-3insAATGCTT
ENST00000269228.9:c.2912-4_2912-3insAATGCTT	ENSP00000269228.4:n.2912-4_2912-3insAATGCTT
ENST00000591051.1:c.1990-4_1990-3insAATGCTT
ENST00000591075.1:n.545-4_545-3insAATGCTT
ENST00000591955.1:n.251_252insAATGCTT
NM_000271.4:c.2912-4_2912-3insAATGCTT	NP_000262.2:n.2912-4_2912-3insAATGCTT
XM_005258277.1:c.2963-4_2963-3insAATGCTT	XP_005258334.1:n.2963-4_2963-3insAATGCTT
XM_005258278.3:c.2963-4_2963-3insAATGCTT	XP_005258335.1:n.2963-4_2963-3insAATGCTT
XM_005258279.1:c.2912-4_2912-3insAATGCTT	XP_005258336.1:n.2912-4_2912-3insAATGCTT
XM_006722479.2:c.2963-4_2963-3insAATGCTT	XP_006722542.1:n.2963-4_2963-3insAATGCTT
XM_011526015.1:c.2498-4_2498-3insAATGCTT	XP_011524317.1:n.2498-4_2498-3insAATGCTT
XM_005258278.5:c.2963-4_2963-3insAATGCTT	XP_005258335.1:n.2963-4_2963-3insAATGCTT
XM_005258279.2:c.2912-4_2912-3insAATGCTT	XP_005258336.1:n.2912-4_2912-3insAATGCTT
XM_006722479.3:c.2963-4_2963-3insAATGCTT	XP_006722542.1:n.2963-4_2963-3insAATGCTT
XM_017025784.1:c.2963-4_2963-3insAATGCTT	XP_016881273.1:n.2963-4_2963-3insAATGCTT
XM_017025785.1:c.2963-4_2963-3insAATGCTT	XP_016881274.1:n.2963-4_2963-3insAATGCTT
XM_017025786.1:c.2912-4_2912-3insAATGCTT	XP_016881275.1:n.2912-4_2912-3insAATGCTT
XM_017025787.1:c.2912-4_2912-3insAATGCTT	XP_016881276.1:n.2912-4_2912-3insAATGCTT
NM_000271.5:c.2912-4_2912-3insAATGCTT MANE Select	NP_000262.2:n.2912-4_2912-3insAATGCTT