Canonical Allele Identifier: CA2624512051

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800572-GCGGGACAAGCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800574_33800585del , CM000676.2:g.33800574_33800585del	GRCh38
NC_000014.8:g.34269780_34269791del , CM000676.1:g.34269780_34269791del	GRCh37
NC_000014.7:g.33339531_33339542del	NCBI36
NG_013036.1:g.866322_866333del
NG_013036.2:g.866322_866333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2267_2278del MANE Select	ENSP00000348460.4:p.Arg756_His759del
ENST00000551634.6:c.2276_2287del	ENSP00000448373.2:p.Arg759_His762del
ENST00000680362.1:c.2167_2178del
ENST00000681323.1:c.793+2993_793+3004del
ENST00000346562.6:c.2171_2182del	ENSP00000319610.5:p.Arg724_His727del
ENST00000356141.8:c.2267_2278del	ENSP00000348460.4:p.Arg756_His759del
ENST00000357798.9:c.2228_2239del	ENSP00000350446.5:p.Arg743_His746del
ENST00000548645.5:c.2177_2188del	ENSP00000448916.1:p.Arg726_His729del
ENST00000551492.5:c.2282_2293del	ENSP00000450392.1:p.Arg761_His764del
ENST00000551634.5:c.2189_2200del	ENSP00000448373.1:p.Arg730_His733del
NM_001164749.1:c.2267_2278del	NP_001158221.1:p.Arg756_His759del
NM_001165893.1:c.2177_2188del	NP_001159365.1:p.Arg726_His729del
NM_022123.2:c.2171_2182del	NP_071406.1:p.Arg724_His727del
NM_173159.2:c.2228_2239del	NP_775182.1:p.Arg743_His746del
XM_005267991.2:c.2288_2299del	XP_005268048.1:p.Arg763_His766del
XM_005267992.2:c.2282_2293del	XP_005268049.1:p.Arg761_His764del
XM_005267993.2:c.2228_2239del	XP_005268050.1:p.Arg743_His746del
XM_011537067.1:c.2318_2329del	XP_011535369.1:p.Arg773_His776del
XM_011537068.1:c.2309_2320del	XP_011535370.1:p.Arg770_His773del
XM_011537069.1:c.2279_2290del	XP_011535371.1:p.Arg760_His763del
XM_011537070.1:c.2222_2233del	XP_011535372.1:p.Arg741_His744del
XM_011537071.1:c.2189_2200del	XP_011535373.1:p.Arg730_His733del
XM_011537072.1:c.2168_2179del	XP_011535374.1:p.Arg723_His726del
XM_011537073.1:c.1961_1972del	XP_011535375.1:p.Arg654_His657del
XM_011537074.1:c.1961_1972del	XP_011535376.1:p.Arg654_His657del
XM_005267991.3:c.2375_2386del	XP_005268048.2:p.Arg792_His795del
XM_005267992.3:c.2369_2380del	XP_005268049.2:p.Arg790_His793del
XM_011537067.2:c.2318_2329del	XP_011535369.1:p.Arg773_His776del
XM_011537069.2:c.2366_2377del	XP_011535371.2:p.Arg789_His792del
XM_011537070.2:c.2222_2233del	XP_011535372.1:p.Arg741_His744del
XM_011537071.2:c.2276_2287del	XP_011535373.2:p.Arg759_His762del
XM_011537072.2:c.2168_2179del	XP_011535374.1:p.Arg723_His726del
XM_017021582.1:c.2426_2437del	XP_016877071.1:p.Arg809_His812del
XM_017021583.1:c.2417_2428del	XP_016877072.1:p.Arg806_His809del
XM_017021584.1:c.2336_2347del	XP_016877073.1:p.Arg779_His782del
XM_017021585.1:c.2285_2296del	XP_016877074.1:p.Arg762_His765del
XM_017021586.1:c.1961_1972del	XP_016877075.1:p.Arg654_His657del
XM_017021587.1:c.1961_1972del	XP_016877076.1:p.Arg654_His657del
XM_017021588.1:c.1961_1972del	XP_016877077.1:p.Arg654_His657del
NM_001164749.2:c.2267_2278del MANE Select	NP_001158221.1:p.Arg756_His759del
NM_001165893.2:c.2177_2188del	NP_001159365.1:p.Arg726_His729del
NM_022123.3:c.2171_2182del	NP_071406.1:p.Arg724_His727del
NM_173159.3:c.2228_2239del	NP_775182.1:p.Arg743_His746del
NM_001394988.1:c.2222_2233del	NP_001381917.1:p.Arg741_His744del
NM_001394989.1:c.2168_2179del	NP_001381918.1:p.Arg723_His726del