Canonical Allele Identifier: CA2290165989

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540003_23540007delinsTGAAA , CM000680.2:g.23540003_23540007delinsTGAAA	GRCh38
NC_000018.9:g.21119967_21119971delinsTGAAA , CM000680.1:g.21119967_21119971delinsTGAAA	GRCh37
NC_000018.8:g.19373965_19373969delinsTGAAA	NCBI36
NG_012795.1:g.51611_51615delinsTTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-6_2605-2delinsTTTCA MANE Select	ENSP00000269228.4:n.2605-6_2605-2delinsTTTCA
ENST00000269228.9:c.2605-6_2605-2delinsTTTCA	ENSP00000269228.4:n.2605-6_2605-2delinsTTTCA
ENST00000540608.5:n.2519-6_2519-2delinsTTTCA
ENST00000586718.1:n.396-6_396-2delinsTTTCA
ENST00000591051.1:c.1683-6_1683-2delinsTTTCA
NM_000271.4:c.2605-6_2605-2delinsTTTCA	NP_000262.2:n.2605-6_2605-2delinsTTTCA
XM_005258277.1:c.2656-6_2656-2delinsTTTCA	XP_005258334.1:n.2656-6_2656-2delinsTTTCA
XM_005258278.3:c.2656-6_2656-2delinsTTTCA	XP_005258335.1:n.2656-6_2656-2delinsTTTCA
XM_005258279.1:c.2605-6_2605-2delinsTTTCA	XP_005258336.1:n.2605-6_2605-2delinsTTTCA
XM_006722479.2:c.2656-6_2656-2delinsTTTCA	XP_006722542.1:n.2656-6_2656-2delinsTTTCA
XM_011526015.1:c.2191-6_2191-2delinsTTTCA	XP_011524317.1:n.2191-6_2191-2delinsTTTCA
XM_005258278.5:c.2656-6_2656-2delinsTTTCA	XP_005258335.1:n.2656-6_2656-2delinsTTTCA
XM_005258279.2:c.2605-6_2605-2delinsTTTCA	XP_005258336.1:n.2605-6_2605-2delinsTTTCA
XM_006722479.3:c.2656-6_2656-2delinsTTTCA	XP_006722542.1:n.2656-6_2656-2delinsTTTCA
XM_017025784.1:c.2656-6_2656-2delinsTTTCA	XP_016881273.1:n.2656-6_2656-2delinsTTTCA
XM_017025785.1:c.2656-6_2656-2delinsTTTCA	XP_016881274.1:n.2656-6_2656-2delinsTTTCA
XM_017025786.1:c.2605-6_2605-2delinsTTTCA	XP_016881275.1:n.2605-6_2605-2delinsTTTCA
XM_017025787.1:c.2605-6_2605-2delinsTTTCA	XP_016881276.1:n.2605-6_2605-2delinsTTTCA
NM_000271.5:c.2605-6_2605-2delinsTTTCA MANE Select	NP_000262.2:n.2605-6_2605-2delinsTTTCA