Canonical Allele Identifier: CA2624512052

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800578-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800580del , CM000676.2:g.33800580del	GRCh38
NC_000014.8:g.34269786del , CM000676.1:g.34269786del	GRCh37
NC_000014.7:g.33339537del	NCBI36
NG_013036.1:g.866328del
NG_013036.2:g.866328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2273del MANE Select	ENSP00000348460.4:p.Lys758SerfsTer?
ENST00000551634.6:c.2282del	ENSP00000448373.2:p.Lys761SerfsTer?
ENST00000680362.1:c.2173del
ENST00000681323.1:c.793+2999del
ENST00000346562.6:c.2177del	ENSP00000319610.5:p.Lys726SerfsTer?
ENST00000356141.8:c.2273del	ENSP00000348460.4:p.Lys758SerfsTer?
ENST00000357798.9:c.2234del	ENSP00000350446.5:p.Lys745SerfsTer?
ENST00000548645.5:c.2183del	ENSP00000448916.1:p.Lys728SerfsTer?
ENST00000551492.5:c.2288del	ENSP00000450392.1:p.Lys763SerfsTer?
ENST00000551634.5:c.2195del	ENSP00000448373.1:p.Lys732SerfsTer?
NM_001164749.1:c.2273del	NP_001158221.1:p.Lys758SerfsTer?
NM_001165893.1:c.2183del	NP_001159365.1:p.Lys728SerfsTer?
NM_022123.2:c.2177del	NP_071406.1:p.Lys726SerfsTer?
NM_173159.2:c.2234del	NP_775182.1:p.Lys745SerfsTer?
XM_005267991.2:c.2294del	XP_005268048.1:p.Lys765SerfsTer?
XM_005267992.2:c.2288del	XP_005268049.1:p.Lys763SerfsTer?
XM_005267993.2:c.2234del	XP_005268050.1:p.Lys745SerfsTer?
XM_011537067.1:c.2324del	XP_011535369.1:p.Lys775SerfsTer?
XM_011537068.1:c.2315del	XP_011535370.1:p.Lys772SerfsTer?
XM_011537069.1:c.2285del	XP_011535371.1:p.Lys762SerfsTer?
XM_011537070.1:c.2228del	XP_011535372.1:p.Lys743SerfsTer?
XM_011537071.1:c.2195del	XP_011535373.1:p.Lys732SerfsTer?
XM_011537072.1:c.2174del	XP_011535374.1:p.Lys725SerfsTer?
XM_011537073.1:c.1967del	XP_011535375.1:p.Lys656SerfsTer?
XM_011537074.1:c.1967del	XP_011535376.1:p.Lys656SerfsTer?
XM_005267991.3:c.2381del	XP_005268048.2:p.Lys794SerfsTer?
XM_005267992.3:c.2375del	XP_005268049.2:p.Lys792SerfsTer?
XM_011537067.2:c.2324del	XP_011535369.1:p.Lys775SerfsTer?
XM_011537069.2:c.2372del	XP_011535371.2:p.Lys791SerfsTer?
XM_011537070.2:c.2228del	XP_011535372.1:p.Lys743SerfsTer?
XM_011537071.2:c.2282del	XP_011535373.2:p.Lys761SerfsTer?
XM_011537072.2:c.2174del	XP_011535374.1:p.Lys725SerfsTer?
XM_017021582.1:c.2432del	XP_016877071.1:p.Lys811SerfsTer?
XM_017021583.1:c.2423del	XP_016877072.1:p.Lys808SerfsTer?
XM_017021584.1:c.2342del	XP_016877073.1:p.Lys781SerfsTer?
XM_017021585.1:c.2291del	XP_016877074.1:p.Lys764SerfsTer?
XM_017021586.1:c.1967del	XP_016877075.1:p.Lys656SerfsTer?
XM_017021587.1:c.1967del	XP_016877076.1:p.Lys656SerfsTer?
XM_017021588.1:c.1967del	XP_016877077.1:p.Lys656SerfsTer?
NM_001164749.2:c.2273del MANE Select	NP_001158221.1:p.Lys758SerfsTer?
NM_001165893.2:c.2183del	NP_001159365.1:p.Lys728SerfsTer?
NM_022123.3:c.2177del	NP_071406.1:p.Lys726SerfsTer?
NM_173159.3:c.2234del	NP_775182.1:p.Lys745SerfsTer?
NM_001394988.1:c.2228del	NP_001381917.1:p.Lys743SerfsTer?
NM_001394989.1:c.2174del	NP_001381918.1:p.Lys725SerfsTer?