Canonical Allele Identifier: CA988383766

Gene: NPC1

Linked Data

• gnomAD v3: 18-23544943-A-AACCCACCCCCCCCCCC
• gnomAD v4: 18-23544943-A-AACCCACCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544943_23544944insACCCACCCCCCCCCCC , CM000680.2:g.23544943_23544944insACCCACCCCCCCCCCC	GRCh38
NC_000018.9:g.21124907_21124908insACCCACCCCCCCCCCC , CM000680.1:g.21124907_21124908insACCCACCCCCCCCCCC	GRCh37
NC_000018.8:g.19378905_19378906insACCCACCCCCCCCCCC	NCBI36
NG_012795.1:g.46674_46675insGGGGGGGGGGGTGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+16_1947+17insGGGGGGGGGGGTGGGT MANE Select	ENSP00000269228.4:n.1947+16_1947+17insGGGGGGGGGGGTGGGT
ENST00000269228.9:c.1947+16_1947+17insGGGGGGGGGGGTGGGT	ENSP00000269228.4:n.1947+16_1947+17insGGGGGGGGGGGTGGGT
ENST00000540608.5:n.1861+16_1861+17insGGGGGGGGGGGTGGGT
ENST00000591051.1:c.1025+16_1025+17insGGGGGGGGGGGTGGGT
NM_000271.4:c.1947+16_1947+17insGGGGGGGGGGGTGGGT	NP_000262.2:n.1947+16_1947+17insGGGGGGGGGGGTGGGT
XM_005258277.1:c.1998+16_1998+17insGGGGGGGGGGGTGGGT	XP_005258334.1:n.1998+16_1998+17insGGGGGGGGGGGTGGGT
XM_005258278.3:c.1998+16_1998+17insGGGGGGGGGGGTGGGT	XP_005258335.1:n.1998+16_1998+17insGGGGGGGGGGGTGGGT
XM_005258279.1:c.1947+16_1947+17insGGGGGGGGGGGTGGGT	XP_005258336.1:n.1947+16_1947+17insGGGGGGGGGGGTGGGT
XM_006722479.2:c.1998+16_1998+17insGGGGGGGGGGGTGGGT	XP_006722542.1:n.1998+16_1998+17insGGGGGGGGGGGTGGGT
XM_011526015.1:c.1533+16_1533+17insGGGGGGGGGGGTGGGT	XP_011524317.1:n.1533+16_1533+17insGGGGGGGGGGGTGGGT
XM_005258278.5:c.1998+16_1998+17insGGGGGGGGGGGTGGGT	XP_005258335.1:n.1998+16_1998+17insGGGGGGGGGGGTGGGT
XM_005258279.2:c.1947+16_1947+17insGGGGGGGGGGGTGGGT	XP_005258336.1:n.1947+16_1947+17insGGGGGGGGGGGTGGGT
XM_006722479.3:c.1998+16_1998+17insGGGGGGGGGGGTGGGT	XP_006722542.1:n.1998+16_1998+17insGGGGGGGGGGGTGGGT
XM_017025784.1:c.1998+16_1998+17insGGGGGGGGGGGTGGGT	XP_016881273.1:n.1998+16_1998+17insGGGGGGGGGGGTGGGT
XM_017025785.1:c.1998+16_1998+17insGGGGGGGGGGGTGGGT	XP_016881274.1:n.1998+16_1998+17insGGGGGGGGGGGTGGGT
XM_017025786.1:c.1947+16_1947+17insGGGGGGGGGGGTGGGT	XP_016881275.1:n.1947+16_1947+17insGGGGGGGGGGGTGGGT
XM_017025787.1:c.1947+16_1947+17insGGGGGGGGGGGTGGGT	XP_016881276.1:n.1947+16_1947+17insGGGGGGGGGGGTGGGT
NM_000271.5:c.1947+16_1947+17insGGGGGGGGGGGTGGGT MANE Select	NP_000262.2:n.1947+16_1947+17insGGGGGGGGGGGTGGGT