Canonical Allele Identifier: CA297084837

Gene: NPC1

Linked Data

• dbSNP Id: rs760078400
• gnomAD v2: 18-21161947-CTTTTTTTCTT-C
• gnomAD v3: 18-23581983-CTTTTTTTCTT-C
• gnomAD v4: 18-23581983-CTTTTTTTCTT-C
• MyVariant Identifiers: chr18:g.21161948_21161957del (hg19) ; chr18:g.23581984_23581993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23581990_23581999del , CM000680.2:g.23581990_23581999del	GRCh38
NC_000018.9:g.21161954_21161963del , CM000680.1:g.21161954_21161963del	GRCh37
NC_000018.8:g.19415952_19415961del	NCBI36
NG_012795.1:g.9625_9634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.57+4294_57+4303del MANE Select	ENSP00000269228.4:n.57+4294_57+4303del
ENST00000269228.9:c.57+4294_57+4303del	ENSP00000269228.4:n.57+4294_57+4303del
ENST00000540608.5:n.201+4294_201+4303del
NM_000271.4:c.57+4294_57+4303del	NP_000262.2:n.57+4294_57+4303del
XM_005258277.1:c.57+4294_57+4303del	XP_005258334.1:n.57+4294_57+4303del
XM_005258278.3:c.57+4294_57+4303del	XP_005258335.1:n.57+4294_57+4303del
XM_005258279.1:c.57+4294_57+4303del	XP_005258336.1:n.57+4294_57+4303del
XM_006722479.2:c.57+4294_57+4303del	XP_006722542.1:n.57+4294_57+4303del
XM_005258278.5:c.57+4294_57+4303del	XP_005258335.1:n.57+4294_57+4303del
XM_005258279.2:c.57+4294_57+4303del	XP_005258336.1:n.57+4294_57+4303del
XM_006722479.3:c.57+4294_57+4303del	XP_006722542.1:n.57+4294_57+4303del
XM_017025784.1:c.57+4294_57+4303del	XP_016881273.1:n.57+4294_57+4303del
XM_017025785.1:c.57+4294_57+4303del	XP_016881274.1:n.57+4294_57+4303del
XM_017025786.1:c.57+4294_57+4303del	XP_016881275.1:n.57+4294_57+4303del
XM_017025787.1:c.57+4294_57+4303del	XP_016881276.1:n.57+4294_57+4303del
NM_000271.5:c.57+4294_57+4303del MANE Select	NP_000262.2:n.57+4294_57+4303del