Canonical Allele Identifier: CA658824807

Gene: NPC1

Linked Data

• ClinVar Variation Id: 552951
• ClinVar RCV Id: RCV000668305
• dbSNP Id: rs1555631176
• gnomAD v4: 18-23532266-GCTTT-G
• MyVariant Identifiers: chr18:g.23532267_23532270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532267_23532270del , CM000680.2:g.23532267_23532270del	GRCh38
NC_000018.9:g.21112231_21112234del , CM000680.1:g.21112231_21112234del	GRCh37
NC_000018.8:g.19366229_19366232del	NCBI36
NG_012795.1:g.59348_59351del
NG_033119.1:g.33798_33801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3769_3772del MANE Select	ENSP00000269228.4:p.Lys1257ProfsTer19
ENST00000269228.9:c.3769_3772del	ENSP00000269228.4:p.Lys1257ProfsTer19
ENST00000586150.5:c.509+1085_509+1088del
ENST00000588867.1:n.1452_1455del
ENST00000590723.5:c.163+1085_163+1088del	ENSP00000464755.1:n.163+1085_163+1088del
ENST00000591051.1:c.2847_2850del
ENST00000591107.6:c.431+1085_431+1088del
ENST00000593280.2:c.86+1085_86+1088del
NM_000271.4:c.3769_3772del	NP_000262.2:p.Lys1257ProfsTer19
XM_005258277.1:c.3805+1085_3805+1088del	XP_005258334.1:n.3805+1085_3805+1088del
XM_005258278.3:c.3820_3823del	XP_005258335.1:p.Lys1274ProfsTer19
XM_005258279.1:c.3754+1085_3754+1088del	XP_005258336.1:n.3754+1085_3754+1088del
XM_006722479.2:c.3805+1085_3805+1088del	XP_006722542.1:n.3805+1085_3805+1088del
XM_011526015.1:c.3340+1085_3340+1088del	XP_011524317.1:n.3340+1085_3340+1088del
XM_005258278.5:c.3820_3823del	XP_005258335.1:p.Lys1274ProfsTer19
XM_005258279.2:c.3754+1085_3754+1088del	XP_005258336.1:n.3754+1085_3754+1088del
XM_006722479.3:c.3805+1085_3805+1088del	XP_006722542.1:n.3805+1085_3805+1088del
XM_017025784.1:c.3805+1085_3805+1088del	XP_016881273.1:n.3805+1085_3805+1088del
XM_017025785.1:c.3805+1085_3805+1088del	XP_016881274.1:n.3805+1085_3805+1088del
XM_017025786.1:c.3754+1085_3754+1088del	XP_016881275.1:n.3754+1085_3754+1088del
XM_017025787.1:c.3754+1085_3754+1088del	XP_016881276.1:n.3754+1085_3754+1088del
NM_000271.5:c.3769_3772del MANE Select	NP_000262.2:p.Lys1257ProfsTer19