Canonical Allele Identifier: CA2580095637

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1726313
• ClinVar RCV Id: RCV002307284

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23561384_23561385del , CM000680.2:g.23561384_23561385del	GRCh38
NC_000018.9:g.21141348_21141349del , CM000680.1:g.21141348_21141349del	GRCh37
NC_000018.8:g.19395346_19395347del	NCBI36
NG_012795.1:g.30235_30236del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.608_609del MANE Select	ENSP00000269228.4:p.Phe203TyrfsTer25
ENST00000269228.9:c.608_609del	ENSP00000269228.4:p.Phe203TyrfsTer25
ENST00000540608.5:n.522_523del
NM_000271.4:c.608_609del	NP_000262.2:p.Phe203TyrfsTer25
XM_005258277.1:c.608_609del	XP_005258334.1:p.Phe203TyrfsTer25
XM_005258278.3:c.608_609del	XP_005258335.1:p.Phe203TyrfsTer25
XM_005258279.1:c.608_609del	XP_005258336.1:p.Phe203TyrfsTer25
XM_006722479.2:c.608_609del	XP_006722542.1:p.Phe203TyrfsTer25
XM_011526015.1:c.143_144del	XP_011524317.1:p.Phe48TyrfsTer25
XM_005258278.5:c.608_609del	XP_005258335.1:p.Phe203TyrfsTer25
XM_005258279.2:c.608_609del	XP_005258336.1:p.Phe203TyrfsTer25
XM_006722479.3:c.608_609del	XP_006722542.1:p.Phe203TyrfsTer25
XM_017025784.1:c.608_609del	XP_016881273.1:p.Phe203TyrfsTer25
XM_017025785.1:c.608_609del	XP_016881274.1:p.Phe203TyrfsTer25
XM_017025786.1:c.608_609del	XP_016881275.1:p.Phe203TyrfsTer25
XM_017025787.1:c.608_609del	XP_016881276.1:p.Phe203TyrfsTer25
NM_000271.5:c.608_609del MANE Select	NP_000262.2:p.Phe203TyrfsTer25