Canonical Allele Identifier: CA2624512053

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800583-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800587del , CM000676.2:g.33800587del	GRCh38
NC_000014.8:g.34269793del , CM000676.1:g.34269793del	GRCh37
NC_000014.7:g.33339544del	NCBI36
NG_013036.1:g.866335del
NG_013036.2:g.866335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2280del MANE Select	ENSP00000348460.4:p.Asn762ThrfsTer?
ENST00000551634.6:c.2289del	ENSP00000448373.2:p.Asn765ThrfsTer?
ENST00000680362.1:c.2180del
ENST00000681323.1:c.793+3006del
ENST00000346562.6:c.2184del	ENSP00000319610.5:p.Asn730ThrfsTer?
ENST00000356141.8:c.2280del	ENSP00000348460.4:p.Asn762ThrfsTer?
ENST00000357798.9:c.2241del	ENSP00000350446.5:p.Asn749ThrfsTer?
ENST00000548645.5:c.2190del	ENSP00000448916.1:p.Asn732ThrfsTer?
ENST00000551492.5:c.2295del	ENSP00000450392.1:p.Asn767ThrfsTer?
ENST00000551634.5:c.2202del	ENSP00000448373.1:p.Asn736ThrfsTer?
NM_001164749.1:c.2280del	NP_001158221.1:p.Asn762ThrfsTer?
NM_001165893.1:c.2190del	NP_001159365.1:p.Asn732ThrfsTer?
NM_022123.2:c.2184del	NP_071406.1:p.Asn730ThrfsTer?
NM_173159.2:c.2241del	NP_775182.1:p.Asn749ThrfsTer?
XM_005267991.2:c.2301del	XP_005268048.1:p.Asn769ThrfsTer?
XM_005267992.2:c.2295del	XP_005268049.1:p.Asn767ThrfsTer?
XM_005267993.2:c.2241del	XP_005268050.1:p.Asn749ThrfsTer?
XM_011537067.1:c.2331del	XP_011535369.1:p.Asn779ThrfsTer?
XM_011537068.1:c.2322del	XP_011535370.1:p.Asn776ThrfsTer?
XM_011537069.1:c.2292del	XP_011535371.1:p.Asn766ThrfsTer?
XM_011537070.1:c.2235del	XP_011535372.1:p.Asn747ThrfsTer?
XM_011537071.1:c.2202del	XP_011535373.1:p.Asn736ThrfsTer?
XM_011537072.1:c.2181del	XP_011535374.1:p.Asn729ThrfsTer?
XM_011537073.1:c.1974del	XP_011535375.1:p.Asn660ThrfsTer?
XM_011537074.1:c.1974del	XP_011535376.1:p.Asn660ThrfsTer?
XM_005267991.3:c.2388del	XP_005268048.2:p.Asn798ThrfsTer?
XM_005267992.3:c.2382del	XP_005268049.2:p.Asn796ThrfsTer?
XM_011537067.2:c.2331del	XP_011535369.1:p.Asn779ThrfsTer?
XM_011537069.2:c.2379del	XP_011535371.2:p.Asn795ThrfsTer?
XM_011537070.2:c.2235del	XP_011535372.1:p.Asn747ThrfsTer?
XM_011537071.2:c.2289del	XP_011535373.2:p.Asn765ThrfsTer?
XM_011537072.2:c.2181del	XP_011535374.1:p.Asn729ThrfsTer?
XM_017021582.1:c.2439del	XP_016877071.1:p.Asn815ThrfsTer?
XM_017021583.1:c.2430del	XP_016877072.1:p.Asn812ThrfsTer?
XM_017021584.1:c.2349del	XP_016877073.1:p.Asn785ThrfsTer?
XM_017021585.1:c.2298del	XP_016877074.1:p.Asn768ThrfsTer?
XM_017021586.1:c.1974del	XP_016877075.1:p.Asn660ThrfsTer?
XM_017021587.1:c.1974del	XP_016877076.1:p.Asn660ThrfsTer?
XM_017021588.1:c.1974del	XP_016877077.1:p.Asn660ThrfsTer?
NM_001164749.2:c.2280del MANE Select	NP_001158221.1:p.Asn762ThrfsTer?
NM_001165893.2:c.2190del	NP_001159365.1:p.Asn732ThrfsTer?
NM_022123.3:c.2184del	NP_071406.1:p.Asn730ThrfsTer?
NM_173159.3:c.2241del	NP_775182.1:p.Asn749ThrfsTer?
NM_001394988.1:c.2235del	NP_001381917.1:p.Asn747ThrfsTer?
NM_001394989.1:c.2181del	NP_001381918.1:p.Asn729ThrfsTer?