Canonical Allele Identifier: CA2290166088

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540177_23540178delinsTG , CM000680.2:g.23540177_23540178delinsTG	GRCh38
NC_000018.9:g.21120141_21120142delinsTG , CM000680.1:g.21120141_21120142delinsTG	GRCh37
NC_000018.8:g.19374139_19374140delinsTG	NCBI36
NG_012795.1:g.51440_51441delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-177_2605-176delinsCA MANE Select	ENSP00000269228.4:n.2605-177_2605-176delinsCA
ENST00000269228.9:c.2605-177_2605-176delinsCA	ENSP00000269228.4:n.2605-177_2605-176delinsCA
ENST00000540608.5:n.2519-177_2519-176delinsCA
ENST00000586718.1:n.396-177_396-176delinsCA
ENST00000591051.1:c.1683-177_1683-176delinsCA
NM_000271.4:c.2605-177_2605-176delinsCA	NP_000262.2:n.2605-177_2605-176delinsCA
XM_005258277.1:c.2656-177_2656-176delinsCA	XP_005258334.1:n.2656-177_2656-176delinsCA
XM_005258278.3:c.2656-177_2656-176delinsCA	XP_005258335.1:n.2656-177_2656-176delinsCA
XM_005258279.1:c.2605-177_2605-176delinsCA	XP_005258336.1:n.2605-177_2605-176delinsCA
XM_006722479.2:c.2656-177_2656-176delinsCA	XP_006722542.1:n.2656-177_2656-176delinsCA
XM_011526015.1:c.2191-177_2191-176delinsCA	XP_011524317.1:n.2191-177_2191-176delinsCA
XM_005258278.5:c.2656-177_2656-176delinsCA	XP_005258335.1:n.2656-177_2656-176delinsCA
XM_005258279.2:c.2605-177_2605-176delinsCA	XP_005258336.1:n.2605-177_2605-176delinsCA
XM_006722479.3:c.2656-177_2656-176delinsCA	XP_006722542.1:n.2656-177_2656-176delinsCA
XM_017025784.1:c.2656-177_2656-176delinsCA	XP_016881273.1:n.2656-177_2656-176delinsCA
XM_017025785.1:c.2656-177_2656-176delinsCA	XP_016881274.1:n.2656-177_2656-176delinsCA
XM_017025786.1:c.2605-177_2605-176delinsCA	XP_016881275.1:n.2605-177_2605-176delinsCA
XM_017025787.1:c.2605-177_2605-176delinsCA	XP_016881276.1:n.2605-177_2605-176delinsCA
NM_000271.5:c.2605-177_2605-176delinsCA MANE Select	NP_000262.2:n.2605-177_2605-176delinsCA