Canonical Allele Identifier: CA2290173036

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554703_23554704delinsAC , CM000680.2:g.23554703_23554704delinsAC	GRCh38
NC_000018.9:g.21134667_21134668delinsAC , CM000680.1:g.21134667_21134668delinsAC	GRCh37
NC_000018.8:g.19388665_19388666delinsAC	NCBI36
NG_012795.1:g.36914_36915delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1553+54_1553+55delinsGT MANE Select	ENSP00000269228.4:n.1553+54_1553+55delinsGT
ENST00000269228.9:c.1553+54_1553+55delinsGT	ENSP00000269228.4:n.1553+54_1553+55delinsGT
ENST00000540608.5:n.1467+54_1467+55delinsGT
ENST00000590301.1:n.228+54_228+55delinsGT
ENST00000591051.1:c.835+54_835+55delinsGT
NM_000271.4:c.1553+54_1553+55delinsGT	NP_000262.2:n.1553+54_1553+55delinsGT
XM_005258277.1:c.1604+54_1604+55delinsGT	XP_005258334.1:n.1604+54_1604+55delinsGT
XM_005258278.3:c.1604+54_1604+55delinsGT	XP_005258335.1:n.1604+54_1604+55delinsGT
XM_005258279.1:c.1553+54_1553+55delinsGT	XP_005258336.1:n.1553+54_1553+55delinsGT
XM_006722479.2:c.1604+54_1604+55delinsGT	XP_006722542.1:n.1604+54_1604+55delinsGT
XM_011526015.1:c.1139+54_1139+55delinsGT	XP_011524317.1:n.1139+54_1139+55delinsGT
XM_005258278.5:c.1604+54_1604+55delinsGT	XP_005258335.1:n.1604+54_1604+55delinsGT
XM_005258279.2:c.1553+54_1553+55delinsGT	XP_005258336.1:n.1553+54_1553+55delinsGT
XM_006722479.3:c.1604+54_1604+55delinsGT	XP_006722542.1:n.1604+54_1604+55delinsGT
XM_017025784.1:c.1604+54_1604+55delinsGT	XP_016881273.1:n.1604+54_1604+55delinsGT
XM_017025785.1:c.1604+54_1604+55delinsGT	XP_016881274.1:n.1604+54_1604+55delinsGT
XM_017025786.1:c.1553+54_1553+55delinsGT	XP_016881275.1:n.1553+54_1553+55delinsGT
XM_017025787.1:c.1553+54_1553+55delinsGT	XP_016881276.1:n.1553+54_1553+55delinsGT
NM_000271.5:c.1553+54_1553+55delinsGT MANE Select	NP_000262.2:n.1553+54_1553+55delinsGT