Canonical Allele Identifier: CA2290175724

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560374_23560375delinsGA , CM000680.2:g.23560374_23560375delinsGA	GRCh38
NC_000018.9:g.21140338_21140339delinsGA , CM000680.1:g.21140338_21140339delinsGA	GRCh37
NC_000018.8:g.19394336_19394337delinsGA	NCBI36
NG_012795.1:g.31243_31244delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.737_738delinsTC MANE Select	ENSP00000269228.4:p.Val246=
ENST00000269228.9:c.737_738delinsTC	ENSP00000269228.4:p.Val246=
ENST00000540608.5:n.651_652delinsTC
NM_000271.4:c.737_738delinsTC	NP_000262.2:p.Val246=
XM_005258277.1:c.737_738delinsTC	XP_005258334.1:p.Val246=
XM_005258278.3:c.737_738delinsTC	XP_005258335.1:p.Val246=
XM_005258279.1:c.737_738delinsTC	XP_005258336.1:p.Val246=
XM_006722479.2:c.737_738delinsTC	XP_006722542.1:p.Val246=
XM_011526015.1:c.272_273delinsTC	XP_011524317.1:p.Val91=
XM_005258278.5:c.737_738delinsTC	XP_005258335.1:p.Val246=
XM_005258279.2:c.737_738delinsTC	XP_005258336.1:p.Val246=
XM_006722479.3:c.737_738delinsTC	XP_006722542.1:p.Val246=
XM_017025784.1:c.737_738delinsTC	XP_016881273.1:p.Val246=
XM_017025785.1:c.737_738delinsTC	XP_016881274.1:p.Val246=
XM_017025786.1:c.737_738delinsTC	XP_016881275.1:p.Val246=
XM_017025787.1:c.737_738delinsTC	XP_016881276.1:p.Val246=
NM_000271.5:c.737_738delinsTC MANE Select	NP_000262.2:p.Val246=