Canonical Allele Identifier: CA2624512050

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800563-GGCGTCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800567_33800574del , CM000676.2:g.33800567_33800574del	GRCh38
NC_000014.8:g.34269773_34269780del , CM000676.1:g.34269773_34269780del	GRCh37
NC_000014.7:g.33339524_33339531del	NCBI36
NG_013036.1:g.866315_866322del
NG_013036.2:g.866315_866322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2260_2267del MANE Select	ENSP00000348460.4:p.Ser754GlyfsTer?
ENST00000551634.6:c.2269_2276del	ENSP00000448373.2:p.Ser757GlyfsTer?
ENST00000680362.1:c.2160_2167del
ENST00000681323.1:c.793+2986_793+2993del
ENST00000346562.6:c.2164_2171del	ENSP00000319610.5:p.Ser722GlyfsTer?
ENST00000356141.8:c.2260_2267del	ENSP00000348460.4:p.Ser754GlyfsTer?
ENST00000357798.9:c.2221_2228del	ENSP00000350446.5:p.Ser741GlyfsTer?
ENST00000548645.5:c.2170_2177del	ENSP00000448916.1:p.Ser724GlyfsTer?
ENST00000551492.5:c.2275_2282del	ENSP00000450392.1:p.Ser759GlyfsTer?
ENST00000551634.5:c.2182_2189del	ENSP00000448373.1:p.Ser728GlyfsTer?
NM_001164749.1:c.2260_2267del	NP_001158221.1:p.Ser754GlyfsTer?
NM_001165893.1:c.2170_2177del	NP_001159365.1:p.Ser724GlyfsTer?
NM_022123.2:c.2164_2171del	NP_071406.1:p.Ser722GlyfsTer?
NM_173159.2:c.2221_2228del	NP_775182.1:p.Ser741GlyfsTer?
XM_005267991.2:c.2281_2288del	XP_005268048.1:p.Ser761GlyfsTer?
XM_005267992.2:c.2275_2282del	XP_005268049.1:p.Ser759GlyfsTer?
XM_005267993.2:c.2221_2228del	XP_005268050.1:p.Ser741GlyfsTer?
XM_011537067.1:c.2311_2318del	XP_011535369.1:p.Ser771GlyfsTer?
XM_011537068.1:c.2302_2309del	XP_011535370.1:p.Ser768GlyfsTer?
XM_011537069.1:c.2272_2279del	XP_011535371.1:p.Ser758GlyfsTer?
XM_011537070.1:c.2215_2222del	XP_011535372.1:p.Ser739GlyfsTer?
XM_011537071.1:c.2182_2189del	XP_011535373.1:p.Ser728GlyfsTer?
XM_011537072.1:c.2161_2168del	XP_011535374.1:p.Ser721GlyfsTer?
XM_011537073.1:c.1954_1961del	XP_011535375.1:p.Ser652GlyfsTer?
XM_011537074.1:c.1954_1961del	XP_011535376.1:p.Ser652GlyfsTer?
XM_005267991.3:c.2368_2375del	XP_005268048.2:p.Ser790GlyfsTer?
XM_005267992.3:c.2362_2369del	XP_005268049.2:p.Ser788GlyfsTer?
XM_011537067.2:c.2311_2318del	XP_011535369.1:p.Ser771GlyfsTer?
XM_011537069.2:c.2359_2366del	XP_011535371.2:p.Ser787GlyfsTer?
XM_011537070.2:c.2215_2222del	XP_011535372.1:p.Ser739GlyfsTer?
XM_011537071.2:c.2269_2276del	XP_011535373.2:p.Ser757GlyfsTer?
XM_011537072.2:c.2161_2168del	XP_011535374.1:p.Ser721GlyfsTer?
XM_017021582.1:c.2419_2426del	XP_016877071.1:p.Ser807GlyfsTer?
XM_017021583.1:c.2410_2417del	XP_016877072.1:p.Ser804GlyfsTer?
XM_017021584.1:c.2329_2336del	XP_016877073.1:p.Ser777GlyfsTer?
XM_017021585.1:c.2278_2285del	XP_016877074.1:p.Ser760GlyfsTer?
XM_017021586.1:c.1954_1961del	XP_016877075.1:p.Ser652GlyfsTer?
XM_017021587.1:c.1954_1961del	XP_016877076.1:p.Ser652GlyfsTer?
XM_017021588.1:c.1954_1961del	XP_016877077.1:p.Ser652GlyfsTer?
NM_001164749.2:c.2260_2267del MANE Select	NP_001158221.1:p.Ser754GlyfsTer?
NM_001165893.2:c.2170_2177del	NP_001159365.1:p.Ser724GlyfsTer?
NM_022123.3:c.2164_2171del	NP_071406.1:p.Ser722GlyfsTer?
NM_173159.3:c.2221_2228del	NP_775182.1:p.Ser741GlyfsTer?
NM_001394988.1:c.2215_2222del	NP_001381917.1:p.Ser739GlyfsTer?
NM_001394989.1:c.2161_2168del	NP_001381918.1:p.Ser721GlyfsTer?