Canonical Allele Identifier: CA777725396

Gene: NPC1

Linked Data

• dbSNP Id: rs1397758676
• gnomAD v3: 18-23544985-TGCCCCAAG-T
• gnomAD v4: 18-23544985-TGCCCCAAG-T
• MyVariant Identifiers: chr18:g.21124950_21124957del (hg19) ; chr18:g.23544986_23544993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544988_23544995del , CM000680.2:g.23544988_23544995del	GRCh38
NC_000018.9:g.21124952_21124959del , CM000680.1:g.21124952_21124959del	GRCh37
NC_000018.8:g.19378950_19378957del	NCBI36
NG_012795.1:g.46625_46632del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1914_1921del MANE Select	ENSP00000269228.4:p.Leu639HisfsTer?
ENST00000269228.9:c.1914_1921del	ENSP00000269228.4:p.Leu639HisfsTer?
ENST00000540608.5:n.1828_1835del
ENST00000591051.1:c.992_999del
NM_000271.4:c.1914_1921del	NP_000262.2:p.Leu639HisfsTer?
XM_005258277.1:c.1965_1972del	XP_005258334.1:p.Leu656HisfsTer?
XM_005258278.3:c.1965_1972del	XP_005258335.1:p.Leu656HisfsTer?
XM_005258279.1:c.1914_1921del	XP_005258336.1:p.Leu639HisfsTer?
XM_006722479.2:c.1965_1972del	XP_006722542.1:p.Leu656HisfsTer?
XM_011526015.1:c.1500_1507del	XP_011524317.1:p.Leu501HisfsTer?
XM_005258278.5:c.1965_1972del	XP_005258335.1:p.Leu656HisfsTer?
XM_005258279.2:c.1914_1921del	XP_005258336.1:p.Leu639HisfsTer?
XM_006722479.3:c.1965_1972del	XP_006722542.1:p.Leu656HisfsTer?
XM_017025784.1:c.1965_1972del	XP_016881273.1:p.Leu656HisfsTer?
XM_017025785.1:c.1965_1972del	XP_016881274.1:p.Leu656HisfsTer?
XM_017025786.1:c.1914_1921del	XP_016881275.1:p.Leu639HisfsTer?
XM_017025787.1:c.1914_1921del	XP_016881276.1:p.Leu639HisfsTer?
NM_000271.5:c.1914_1921del MANE Select	NP_000262.2:p.Leu639HisfsTer?