Canonical Allele Identifier: CA2624512039

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800486-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800487del , CM000676.2:g.33800487del	GRCh38
NC_000014.8:g.34269693del , CM000676.1:g.34269693del	GRCh37
NC_000014.7:g.33339444del	NCBI36
NG_013036.1:g.866235del
NG_013036.2:g.866235del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2180del MANE Select	ENSP00000348460.4:p.Arg727ProfsTer?
ENST00000551634.6:c.2189del	ENSP00000448373.2:p.Arg730ProfsTer?
ENST00000680362.1:c.2080del
ENST00000681323.1:c.793+2906del
ENST00000346562.6:c.2084del	ENSP00000319610.5:p.Arg695ProfsTer?
ENST00000356141.8:c.2180del	ENSP00000348460.4:p.Arg727ProfsTer?
ENST00000357798.9:c.2141del	ENSP00000350446.5:p.Arg714ProfsTer?
ENST00000548645.5:c.2090del	ENSP00000448916.1:p.Arg697ProfsTer?
ENST00000551492.5:c.2195del	ENSP00000450392.1:p.Arg732ProfsTer?
ENST00000551634.5:c.2102del	ENSP00000448373.1:p.Arg701ProfsTer?
NM_001164749.1:c.2180del	NP_001158221.1:p.Arg727ProfsTer?
NM_001165893.1:c.2090del	NP_001159365.1:p.Arg697ProfsTer?
NM_022123.2:c.2084del	NP_071406.1:p.Arg695ProfsTer?
NM_173159.2:c.2141del	NP_775182.1:p.Arg714ProfsTer?
XM_005267991.2:c.2201del	XP_005268048.1:p.Arg734ProfsTer?
XM_005267992.2:c.2195del	XP_005268049.1:p.Arg732ProfsTer?
XM_005267993.2:c.2141del	XP_005268050.1:p.Arg714ProfsTer?
XM_011537067.1:c.2231del	XP_011535369.1:p.Arg744ProfsTer?
XM_011537068.1:c.2222del	XP_011535370.1:p.Arg741ProfsTer?
XM_011537069.1:c.2192del	XP_011535371.1:p.Arg731ProfsTer?
XM_011537070.1:c.2135del	XP_011535372.1:p.Arg712ProfsTer?
XM_011537071.1:c.2102del	XP_011535373.1:p.Arg701ProfsTer?
XM_011537072.1:c.2081del	XP_011535374.1:p.Arg694ProfsTer?
XM_011537073.1:c.1874del	XP_011535375.1:p.Arg625ProfsTer?
XM_011537074.1:c.1874del	XP_011535376.1:p.Arg625ProfsTer?
XM_005267991.3:c.2288del	XP_005268048.2:p.Arg763ProfsTer?
XM_005267992.3:c.2282del	XP_005268049.2:p.Arg761ProfsTer?
XM_011537067.2:c.2231del	XP_011535369.1:p.Arg744ProfsTer?
XM_011537069.2:c.2279del	XP_011535371.2:p.Arg760ProfsTer?
XM_011537070.2:c.2135del	XP_011535372.1:p.Arg712ProfsTer?
XM_011537071.2:c.2189del	XP_011535373.2:p.Arg730ProfsTer?
XM_011537072.2:c.2081del	XP_011535374.1:p.Arg694ProfsTer?
XM_017021582.1:c.2339del	XP_016877071.1:p.Arg780ProfsTer?
XM_017021583.1:c.2330del	XP_016877072.1:p.Arg777ProfsTer?
XM_017021584.1:c.2249del	XP_016877073.1:p.Arg750ProfsTer?
XM_017021585.1:c.2198del	XP_016877074.1:p.Arg733ProfsTer?
XM_017021586.1:c.1874del	XP_016877075.1:p.Arg625ProfsTer?
XM_017021587.1:c.1874del	XP_016877076.1:p.Arg625ProfsTer?
XM_017021588.1:c.1874del	XP_016877077.1:p.Arg625ProfsTer?
NM_001164749.2:c.2180del MANE Select	NP_001158221.1:p.Arg727ProfsTer?
NM_001165893.2:c.2090del	NP_001159365.1:p.Arg697ProfsTer?
NM_022123.3:c.2084del	NP_071406.1:p.Arg695ProfsTer?
NM_173159.3:c.2141del	NP_775182.1:p.Arg714ProfsTer?
NM_001394988.1:c.2135del	NP_001381917.1:p.Arg712ProfsTer?
NM_001394989.1:c.2081del	NP_001381918.1:p.Arg694ProfsTer?