Canonical Allele Identifier: CA988383686

Gene: NPC1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544950_23544951insACCCCCCCCCCCCCCCCC , CM000680.2:g.23544950_23544951insACCCCCCCCCCCCCCCCC	GRCh38
NC_000018.9:g.21124914_21124915insACCCCCCCCCCCCCCCCC , CM000680.1:g.21124914_21124915insACCCCCCCCCCCCCCCCC	GRCh37
NC_000018.8:g.19378912_19378913insACCCCCCCCCCCCCCCCC	NCBI36
NG_012795.1:g.46674_46675insGGGGGGGGGGTGGGGGGG

Transcript Alleles

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