Canonical Allele Identifier: CA2290163623

Gene: NPC1

Linked Data

• dbSNP Id: rs2058606675

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535070_23535072del , CM000680.2:g.23535070_23535072del	GRCh38
NC_000018.9:g.21115034_21115036del , CM000680.1:g.21115034_21115036del	GRCh37
NC_000018.8:g.19369032_19369034del	NCBI36
NG_012795.1:g.56549_56551del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3477+400_3477+402del MANE Select	ENSP00000269228.4:n.3477+400_3477+402del
ENST00000269228.9:c.3477+400_3477+402del	ENSP00000269228.4:n.3477+400_3477+402del
ENST00000586150.5:c.232+400_232+402del
ENST00000588867.1:n.232+400_232+402del
ENST00000591051.1:c.2555+400_2555+402del
ENST00000591107.6:c.154+400_154+402del
NM_000271.4:c.3477+400_3477+402del	NP_000262.2:n.3477+400_3477+402del
XM_005258277.1:c.3528+400_3528+402del	XP_005258334.1:n.3528+400_3528+402del
XM_005258278.3:c.3528+400_3528+402del	XP_005258335.1:n.3528+400_3528+402del
XM_005258279.1:c.3477+400_3477+402del	XP_005258336.1:n.3477+400_3477+402del
XM_006722479.2:c.3528+400_3528+402del	XP_006722542.1:n.3528+400_3528+402del
XM_011526015.1:c.3063+400_3063+402del	XP_011524317.1:n.3063+400_3063+402del
XM_005258278.5:c.3528+400_3528+402del	XP_005258335.1:n.3528+400_3528+402del
XM_005258279.2:c.3477+400_3477+402del	XP_005258336.1:n.3477+400_3477+402del
XM_006722479.3:c.3528+400_3528+402del	XP_006722542.1:n.3528+400_3528+402del
XM_017025784.1:c.3528+400_3528+402del	XP_016881273.1:n.3528+400_3528+402del
XM_017025785.1:c.3528+400_3528+402del	XP_016881274.1:n.3528+400_3528+402del
XM_017025786.1:c.3477+400_3477+402del	XP_016881275.1:n.3477+400_3477+402del
XM_017025787.1:c.3477+400_3477+402del	XP_016881276.1:n.3477+400_3477+402del
NM_000271.5:c.3477+400_3477+402del MANE Select	NP_000262.2:n.3477+400_3477+402del