Canonical Allele Identifier: CA2590793620

Gene: NPAS3

Linked Data

• dbSNP Id: rs2138686258
• gnomAD v3: 14-33800202-AG-A
• gnomAD v4: 14-33800202-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800203del , CM000676.2:g.33800203del	GRCh38
NC_000014.8:g.34269409del , CM000676.1:g.34269409del	GRCh37
NC_000014.7:g.33339160del	NCBI36
NG_013036.1:g.865951del
NG_013036.2:g.865951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1896del MANE Select	ENSP00000348460.4:p.Glu632AspfsTer?
ENST00000551634.6:c.1905del	ENSP00000448373.2:p.Glu635AspfsTer?
ENST00000680362.1:c.1796del
ENST00000681323.1:c.793+2622del
ENST00000346562.6:c.1800del	ENSP00000319610.5:p.Glu600AspfsTer?
ENST00000356141.8:c.1896del	ENSP00000348460.4:p.Glu632AspfsTer?
ENST00000357798.9:c.1857del	ENSP00000350446.5:p.Glu619AspfsTer?
ENST00000548645.5:c.1806del	ENSP00000448916.1:p.Glu602AspfsTer?
ENST00000551492.5:c.1911del	ENSP00000450392.1:p.Glu637AspfsTer?
ENST00000551634.5:c.1818del	ENSP00000448373.1:p.Glu606AspfsTer?
NM_001164749.1:c.1896del	NP_001158221.1:p.Glu632AspfsTer?
NM_001165893.1:c.1806del	NP_001159365.1:p.Glu602AspfsTer?
NM_022123.2:c.1800del	NP_071406.1:p.Glu600AspfsTer?
NM_173159.2:c.1857del	NP_775182.1:p.Glu619AspfsTer?
XM_005267991.2:c.1917del	XP_005268048.1:p.Glu639AspfsTer?
XM_005267992.2:c.1911del	XP_005268049.1:p.Glu637AspfsTer?
XM_005267993.2:c.1857del	XP_005268050.1:p.Glu619AspfsTer?
XM_011537067.1:c.1947del	XP_011535369.1:p.Glu649AspfsTer?
XM_011537068.1:c.1938del	XP_011535370.1:p.Glu646AspfsTer?
XM_011537069.1:c.1908del	XP_011535371.1:p.Glu636AspfsTer?
XM_011537070.1:c.1851del	XP_011535372.1:p.Glu617AspfsTer?
XM_011537071.1:c.1818del	XP_011535373.1:p.Glu606AspfsTer?
XM_011537072.1:c.1797del	XP_011535374.1:p.Glu599AspfsTer?
XM_011537073.1:c.1590del	XP_011535375.1:p.Glu530AspfsTer?
XM_011537074.1:c.1590del	XP_011535376.1:p.Glu530AspfsTer?
XM_005267991.3:c.2004del	XP_005268048.2:p.Glu668AspfsTer?
XM_005267992.3:c.1998del	XP_005268049.2:p.Glu666AspfsTer?
XM_011537067.2:c.1947del	XP_011535369.1:p.Glu649AspfsTer?
XM_011537069.2:c.1995del	XP_011535371.2:p.Glu665AspfsTer?
XM_011537070.2:c.1851del	XP_011535372.1:p.Glu617AspfsTer?
XM_011537071.2:c.1905del	XP_011535373.2:p.Glu635AspfsTer?
XM_011537072.2:c.1797del	XP_011535374.1:p.Glu599AspfsTer?
XM_017021582.1:c.2055del	XP_016877071.1:p.Glu685AspfsTer?
XM_017021583.1:c.2046del	XP_016877072.1:p.Glu682AspfsTer?
XM_017021584.1:c.1965del	XP_016877073.1:p.Glu655AspfsTer?
XM_017021585.1:c.1914del	XP_016877074.1:p.Glu638AspfsTer?
XM_017021586.1:c.1590del	XP_016877075.1:p.Glu530AspfsTer?
XM_017021587.1:c.1590del	XP_016877076.1:p.Glu530AspfsTer?
XM_017021588.1:c.1590del	XP_016877077.1:p.Glu530AspfsTer?
NM_001164749.2:c.1896del MANE Select	NP_001158221.1:p.Glu632AspfsTer?
NM_001165893.2:c.1806del	NP_001159365.1:p.Glu602AspfsTer?
NM_022123.3:c.1800del	NP_071406.1:p.Glu600AspfsTer?
NM_173159.3:c.1857del	NP_775182.1:p.Glu619AspfsTer?
NM_001394988.1:c.1851del	NP_001381917.1:p.Glu617AspfsTer?
NM_001394989.1:c.1797del	NP_001381918.1:p.Glu599AspfsTer?