Canonical Allele Identifier: CA297075250

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1616246
• ClinVar RCV Id: RCV002084163
• dbSNP Id: rs932568903
• gnomAD v2: 18-21112265-CTT-C
• gnomAD v3: 18-23532301-CTT-C
• gnomAD v4: 18-23532301-CTT-C
• MyVariant Identifiers: chr18:g.21112266_21112267del (hg19) ; chr18:g.23532302_23532303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532305_23532306del , CM000680.2:g.23532305_23532306del	GRCh38
NC_000018.9:g.21112269_21112270del , CM000680.1:g.21112269_21112270del	GRCh37
NC_000018.8:g.19366267_19366268del	NCBI36
NG_012795.1:g.59315_59316del
NG_033119.1:g.33836_33837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3755-19_3755-18del MANE Select	ENSP00000269228.4:n.3755-19_3755-18del
ENST00000269228.9:c.3755-19_3755-18del	ENSP00000269228.4:n.3755-19_3755-18del
ENST00000586150.5:c.509+1052_509+1053del
ENST00000588867.1:n.1438-19_1438-18del
ENST00000590723.5:c.163+1052_163+1053del	ENSP00000464755.1:n.163+1052_163+1053del
ENST00000591051.1:c.2833-19_2833-18del
ENST00000591107.6:c.431+1052_431+1053del
ENST00000593280.2:c.86+1052_86+1053del
NM_000271.4:c.3755-19_3755-18del	NP_000262.2:n.3755-19_3755-18del
XM_005258277.1:c.3805+1052_3805+1053del	XP_005258334.1:n.3805+1052_3805+1053del
XM_005258278.3:c.3806-19_3806-18del	XP_005258335.1:n.3806-19_3806-18del
XM_005258279.1:c.3754+1052_3754+1053del	XP_005258336.1:n.3754+1052_3754+1053del
XM_006722479.2:c.3805+1052_3805+1053del	XP_006722542.1:n.3805+1052_3805+1053del
XM_011526015.1:c.3340+1052_3340+1053del	XP_011524317.1:n.3340+1052_3340+1053del
XM_005258278.5:c.3806-19_3806-18del	XP_005258335.1:n.3806-19_3806-18del
XM_005258279.2:c.3754+1052_3754+1053del	XP_005258336.1:n.3754+1052_3754+1053del
XM_006722479.3:c.3805+1052_3805+1053del	XP_006722542.1:n.3805+1052_3805+1053del
XM_017025784.1:c.3805+1052_3805+1053del	XP_016881273.1:n.3805+1052_3805+1053del
XM_017025785.1:c.3805+1052_3805+1053del	XP_016881274.1:n.3805+1052_3805+1053del
XM_017025786.1:c.3754+1052_3754+1053del	XP_016881275.1:n.3754+1052_3754+1053del
XM_017025787.1:c.3754+1052_3754+1053del	XP_016881276.1:n.3754+1052_3754+1053del
NM_000271.5:c.3755-19_3755-18del MANE Select	NP_000262.2:n.3755-19_3755-18del