Canonical Allele Identifier: CA2624512035

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800410-T-TGGCGGTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800413_33800421dup , CM000676.2:g.33800413_33800421dup	GRCh38
NC_000014.8:g.34269619_34269627dup , CM000676.1:g.34269619_34269627dup	GRCh37
NC_000014.7:g.33339370_33339378dup	NCBI36
NG_013036.1:g.866161_866169dup
NG_013036.2:g.866161_866169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2106_2114dup MANE Select	ENSP00000348460.4:p.Gly705_Gly706insGlyGlyGly
ENST00000551634.6:c.2115_2123dup	ENSP00000448373.2:p.Gly708_Gly709insGlyGlyGly
ENST00000680362.1:c.2006_2014dup
ENST00000681323.1:c.793+2832_793+2840dup
ENST00000346562.6:c.2010_2018dup	ENSP00000319610.5:p.Gly673_Gly674insGlyGlyGly
ENST00000356141.8:c.2106_2114dup	ENSP00000348460.4:p.Gly705_Gly706insGlyGlyGly
ENST00000357798.9:c.2067_2075dup	ENSP00000350446.5:p.Gly692_Gly693insGlyGlyGly
ENST00000548645.5:c.2016_2024dup	ENSP00000448916.1:p.Gly675_Gly676insGlyGlyGly
ENST00000551492.5:c.2121_2129dup	ENSP00000450392.1:p.Gly710_Gly711insGlyGlyGly
ENST00000551634.5:c.2028_2036dup	ENSP00000448373.1:p.Gly679_Gly680insGlyGlyGly
NM_001164749.1:c.2106_2114dup	NP_001158221.1:p.Gly705_Gly706insGlyGlyGly
NM_001165893.1:c.2016_2024dup	NP_001159365.1:p.Gly675_Gly676insGlyGlyGly
NM_022123.2:c.2010_2018dup	NP_071406.1:p.Gly673_Gly674insGlyGlyGly
NM_173159.2:c.2067_2075dup	NP_775182.1:p.Gly692_Gly693insGlyGlyGly
XM_005267991.2:c.2127_2135dup	XP_005268048.1:p.Gly712_Gly713insGlyGlyGly
XM_005267992.2:c.2121_2129dup	XP_005268049.1:p.Gly710_Gly711insGlyGlyGly
XM_005267993.2:c.2067_2075dup	XP_005268050.1:p.Gly692_Gly693insGlyGlyGly
XM_011537067.1:c.2157_2165dup	XP_011535369.1:p.Gly722_Gly723insGlyGlyGly
XM_011537068.1:c.2148_2156dup	XP_011535370.1:p.Gly719_Gly720insGlyGlyGly
XM_011537069.1:c.2118_2126dup	XP_011535371.1:p.Gly709_Gly710insGlyGlyGly
XM_011537070.1:c.2061_2069dup	XP_011535372.1:p.Gly690_Gly691insGlyGlyGly
XM_011537071.1:c.2028_2036dup	XP_011535373.1:p.Gly679_Gly680insGlyGlyGly
XM_011537072.1:c.2007_2015dup	XP_011535374.1:p.Gly672_Gly673insGlyGlyGly
XM_011537073.1:c.1800_1808dup	XP_011535375.1:p.Gly603_Gly604insGlyGlyGly
XM_011537074.1:c.1800_1808dup	XP_011535376.1:p.Gly603_Gly604insGlyGlyGly
XM_005267991.3:c.2214_2222dup	XP_005268048.2:p.Gly741_Gly742insGlyGlyGly
XM_005267992.3:c.2208_2216dup	XP_005268049.2:p.Gly739_Gly740insGlyGlyGly
XM_011537067.2:c.2157_2165dup	XP_011535369.1:p.Gly722_Gly723insGlyGlyGly
XM_011537069.2:c.2205_2213dup	XP_011535371.2:p.Gly738_Gly739insGlyGlyGly
XM_011537070.2:c.2061_2069dup	XP_011535372.1:p.Gly690_Gly691insGlyGlyGly
XM_011537071.2:c.2115_2123dup	XP_011535373.2:p.Gly708_Gly709insGlyGlyGly
XM_011537072.2:c.2007_2015dup	XP_011535374.1:p.Gly672_Gly673insGlyGlyGly
XM_017021582.1:c.2265_2273dup	XP_016877071.1:p.Gly758_Gly759insGlyGlyGly
XM_017021583.1:c.2256_2264dup	XP_016877072.1:p.Gly755_Gly756insGlyGlyGly
XM_017021584.1:c.2175_2183dup	XP_016877073.1:p.Gly728_Gly729insGlyGlyGly
XM_017021585.1:c.2124_2132dup	XP_016877074.1:p.Gly711_Gly712insGlyGlyGly
XM_017021586.1:c.1800_1808dup	XP_016877075.1:p.Gly603_Gly604insGlyGlyGly
XM_017021587.1:c.1800_1808dup	XP_016877076.1:p.Gly603_Gly604insGlyGlyGly
XM_017021588.1:c.1800_1808dup	XP_016877077.1:p.Gly603_Gly604insGlyGlyGly
NM_001164749.2:c.2106_2114dup MANE Select	NP_001158221.1:p.Gly705_Gly706insGlyGlyGly
NM_001165893.2:c.2016_2024dup	NP_001159365.1:p.Gly675_Gly676insGlyGlyGly
NM_022123.3:c.2010_2018dup	NP_071406.1:p.Gly673_Gly674insGlyGlyGly
NM_173159.3:c.2067_2075dup	NP_775182.1:p.Gly692_Gly693insGlyGlyGly
NM_001394988.1:c.2061_2069dup	NP_001381917.1:p.Gly690_Gly691insGlyGlyGly
NM_001394989.1:c.2007_2015dup	NP_001381918.1:p.Gly672_Gly673insGlyGlyGly