Canonical Allele Identifier: CA2290165997

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540014_23540015delinsTA , CM000680.2:g.23540014_23540015delinsTA	GRCh38
NC_000018.9:g.21119978_21119979delinsTA , CM000680.1:g.21119978_21119979delinsTA	GRCh37
NC_000018.8:g.19373976_19373977delinsTA	NCBI36
NG_012795.1:g.51603_51604delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2605-14_2605-13delinsTA MANE Select	ENSP00000269228.4:n.2605-14_2605-13delinsTA
ENST00000269228.9:c.2605-14_2605-13delinsTA	ENSP00000269228.4:n.2605-14_2605-13delinsTA
ENST00000540608.5:n.2519-14_2519-13delinsTA
ENST00000586718.1:n.396-14_396-13delinsTA
ENST00000591051.1:c.1683-14_1683-13delinsTA
NM_000271.4:c.2605-14_2605-13delinsTA	NP_000262.2:n.2605-14_2605-13delinsTA
XM_005258277.1:c.2656-14_2656-13delinsTA	XP_005258334.1:n.2656-14_2656-13delinsTA
XM_005258278.3:c.2656-14_2656-13delinsTA	XP_005258335.1:n.2656-14_2656-13delinsTA
XM_005258279.1:c.2605-14_2605-13delinsTA	XP_005258336.1:n.2605-14_2605-13delinsTA
XM_006722479.2:c.2656-14_2656-13delinsTA	XP_006722542.1:n.2656-14_2656-13delinsTA
XM_011526015.1:c.2191-14_2191-13delinsTA	XP_011524317.1:n.2191-14_2191-13delinsTA
XM_005258278.5:c.2656-14_2656-13delinsTA	XP_005258335.1:n.2656-14_2656-13delinsTA
XM_005258279.2:c.2605-14_2605-13delinsTA	XP_005258336.1:n.2605-14_2605-13delinsTA
XM_006722479.3:c.2656-14_2656-13delinsTA	XP_006722542.1:n.2656-14_2656-13delinsTA
XM_017025784.1:c.2656-14_2656-13delinsTA	XP_016881273.1:n.2656-14_2656-13delinsTA
XM_017025785.1:c.2656-14_2656-13delinsTA	XP_016881274.1:n.2656-14_2656-13delinsTA
XM_017025786.1:c.2605-14_2605-13delinsTA	XP_016881275.1:n.2605-14_2605-13delinsTA
XM_017025787.1:c.2605-14_2605-13delinsTA	XP_016881276.1:n.2605-14_2605-13delinsTA
NM_000271.5:c.2605-14_2605-13delinsTA MANE Select	NP_000262.2:n.2605-14_2605-13delinsTA