Canonical Allele Identifier: CA777718876

Gene: NPC1

Linked Data

• dbSNP Id: rs1390256491
• gnomAD v4: 18-23538703-AG-A
• MyVariant Identifiers: chr18:g.21118668del (hg19) ; chr18:g.23538704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538704del , CM000680.2:g.23538704del	GRCh38
NC_000018.9:g.21118668del , CM000680.1:g.21118668del	GRCh37
NC_000018.8:g.19372666del	NCBI36
NG_012795.1:g.52914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2912-33del MANE Select	ENSP00000269228.4:n.2912-33del
ENST00000269228.9:c.2912-33del	ENSP00000269228.4:n.2912-33del
ENST00000591051.1:c.1990-33del
ENST00000591075.1:n.545-33del
ENST00000591955.1:n.222del
NM_000271.4:c.2912-33del	NP_000262.2:n.2912-33del
XM_005258277.1:c.2963-33del	XP_005258334.1:n.2963-33del
XM_005258278.3:c.2963-33del	XP_005258335.1:n.2963-33del
XM_005258279.1:c.2912-33del	XP_005258336.1:n.2912-33del
XM_006722479.2:c.2963-33del	XP_006722542.1:n.2963-33del
XM_011526015.1:c.2498-33del	XP_011524317.1:n.2498-33del
XM_005258278.5:c.2963-33del	XP_005258335.1:n.2963-33del
XM_005258279.2:c.2912-33del	XP_005258336.1:n.2912-33del
XM_006722479.3:c.2963-33del	XP_006722542.1:n.2963-33del
XM_017025784.1:c.2963-33del	XP_016881273.1:n.2963-33del
XM_017025785.1:c.2963-33del	XP_016881274.1:n.2963-33del
XM_017025786.1:c.2912-33del	XP_016881275.1:n.2912-33del
XM_017025787.1:c.2912-33del	XP_016881276.1:n.2912-33del
NM_000271.5:c.2912-33del MANE Select	NP_000262.2:n.2912-33del