Canonical Allele Identifier: CA645582790

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800419-CG-C
• COSMIC: COSM5121720

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800425del , CM000676.2:g.33800425del	GRCh38
NC_000014.8:g.34269631del , CM000676.1:g.34269631del	GRCh37
NC_000014.7:g.33339382del	NCBI36
NG_013036.1:g.866173del
NG_013036.2:g.866173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2118del MANE Select	ENSP00000348460.4:p.Leu707CysfsTer?
ENST00000551634.6:c.2127del	ENSP00000448373.2:p.Leu710CysfsTer?
ENST00000680362.1:c.2018del
ENST00000681323.1:c.793+2844del
ENST00000346562.6:c.2022del	ENSP00000319610.5:p.Leu675CysfsTer?
ENST00000356141.8:c.2118del	ENSP00000348460.4:p.Leu707CysfsTer?
ENST00000357798.9:c.2079del	ENSP00000350446.5:p.Leu694CysfsTer?
ENST00000548645.5:c.2028del	ENSP00000448916.1:p.Leu677CysfsTer?
ENST00000551492.5:c.2133del	ENSP00000450392.1:p.Leu712CysfsTer?
ENST00000551634.5:c.2040del	ENSP00000448373.1:p.Leu681CysfsTer?
NM_001164749.1:c.2118del	NP_001158221.1:p.Leu707CysfsTer?
NM_001165893.1:c.2028del	NP_001159365.1:p.Leu677CysfsTer?
NM_022123.2:c.2022del	NP_071406.1:p.Leu675CysfsTer?
NM_173159.2:c.2079del	NP_775182.1:p.Leu694CysfsTer?
XM_005267991.2:c.2139del	XP_005268048.1:p.Leu714CysfsTer?
XM_005267992.2:c.2133del	XP_005268049.1:p.Leu712CysfsTer?
XM_005267993.2:c.2079del	XP_005268050.1:p.Leu694CysfsTer?
XM_011537067.1:c.2169del	XP_011535369.1:p.Leu724CysfsTer?
XM_011537068.1:c.2160del	XP_011535370.1:p.Leu721CysfsTer?
XM_011537069.1:c.2130del	XP_011535371.1:p.Leu711CysfsTer?
XM_011537070.1:c.2073del	XP_011535372.1:p.Leu692CysfsTer?
XM_011537071.1:c.2040del	XP_011535373.1:p.Leu681CysfsTer?
XM_011537072.1:c.2019del	XP_011535374.1:p.Leu674CysfsTer?
XM_011537073.1:c.1812del	XP_011535375.1:p.Leu605CysfsTer?
XM_011537074.1:c.1812del	XP_011535376.1:p.Leu605CysfsTer?
XM_005267991.3:c.2226del	XP_005268048.2:p.Leu743CysfsTer?
XM_005267992.3:c.2220del	XP_005268049.2:p.Leu741CysfsTer?
XM_011537067.2:c.2169del	XP_011535369.1:p.Leu724CysfsTer?
XM_011537069.2:c.2217del	XP_011535371.2:p.Leu740CysfsTer?
XM_011537070.2:c.2073del	XP_011535372.1:p.Leu692CysfsTer?
XM_011537071.2:c.2127del	XP_011535373.2:p.Leu710CysfsTer?
XM_011537072.2:c.2019del	XP_011535374.1:p.Leu674CysfsTer?
XM_017021582.1:c.2277del	XP_016877071.1:p.Leu760CysfsTer?
XM_017021583.1:c.2268del	XP_016877072.1:p.Leu757CysfsTer?
XM_017021584.1:c.2187del	XP_016877073.1:p.Leu730CysfsTer?
XM_017021585.1:c.2136del	XP_016877074.1:p.Leu713CysfsTer?
XM_017021586.1:c.1812del	XP_016877075.1:p.Leu605CysfsTer?
XM_017021587.1:c.1812del	XP_016877076.1:p.Leu605CysfsTer?
XM_017021588.1:c.1812del	XP_016877077.1:p.Leu605CysfsTer?
NM_001164749.2:c.2118del MANE Select	NP_001158221.1:p.Leu707CysfsTer?
NM_001165893.2:c.2028del	NP_001159365.1:p.Leu677CysfsTer?
NM_022123.3:c.2022del	NP_071406.1:p.Leu675CysfsTer?
NM_173159.3:c.2079del	NP_775182.1:p.Leu694CysfsTer?
NM_001394988.1:c.2073del	NP_001381917.1:p.Leu692CysfsTer?
NM_001394989.1:c.2019del	NP_001381918.1:p.Leu674CysfsTer?