Canonical Allele Identifier: CA2624512026

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800075-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800080_33800081del , CM000676.2:g.33800080_33800081del	GRCh38
NC_000014.8:g.34269286_34269287del , CM000676.1:g.34269286_34269287del	GRCh37
NC_000014.7:g.33339037_33339038del	NCBI36
NG_013036.1:g.865828_865829del
NG_013036.2:g.865828_865829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1773_1774del MANE Select	ENSP00000348460.4:p.Gln592GlyfsTer?
ENST00000551634.6:c.1782_1783del	ENSP00000448373.2:p.Gln595GlyfsTer?
ENST00000680362.1:c.1673_1674del
ENST00000681323.1:c.793+2499_793+2500del
ENST00000346562.6:c.1677_1678del	ENSP00000319610.5:p.Gln560GlyfsTer?
ENST00000356141.8:c.1773_1774del	ENSP00000348460.4:p.Gln592GlyfsTer?
ENST00000357798.9:c.1734_1735del	ENSP00000350446.5:p.Gln579GlyfsTer?
ENST00000548645.5:c.1683_1684del	ENSP00000448916.1:p.Gln562GlyfsTer?
ENST00000551492.5:c.1788_1789del	ENSP00000450392.1:p.Gln597GlyfsTer?
ENST00000551634.5:c.1695_1696del	ENSP00000448373.1:p.Gln566GlyfsTer?
NM_001164749.1:c.1773_1774del	NP_001158221.1:p.Gln592GlyfsTer?
NM_001165893.1:c.1683_1684del	NP_001159365.1:p.Gln562GlyfsTer?
NM_022123.2:c.1677_1678del	NP_071406.1:p.Gln560GlyfsTer?
NM_173159.2:c.1734_1735del	NP_775182.1:p.Gln579GlyfsTer?
XM_005267991.2:c.1794_1795del	XP_005268048.1:p.Gln599GlyfsTer?
XM_005267992.2:c.1788_1789del	XP_005268049.1:p.Gln597GlyfsTer?
XM_005267993.2:c.1734_1735del	XP_005268050.1:p.Gln579GlyfsTer?
XM_011537067.1:c.1824_1825del	XP_011535369.1:p.Gln609GlyfsTer?
XM_011537068.1:c.1815_1816del	XP_011535370.1:p.Gln606GlyfsTer?
XM_011537069.1:c.1785_1786del	XP_011535371.1:p.Gln596GlyfsTer?
XM_011537070.1:c.1728_1729del	XP_011535372.1:p.Gln577GlyfsTer?
XM_011537071.1:c.1695_1696del	XP_011535373.1:p.Gln566GlyfsTer?
XM_011537072.1:c.1674_1675del	XP_011535374.1:p.Gln559GlyfsTer?
XM_011537073.1:c.1467_1468del	XP_011535375.1:p.Gln490GlyfsTer?
XM_011537074.1:c.1467_1468del	XP_011535376.1:p.Gln490GlyfsTer?
XM_005267991.3:c.1881_1882del	XP_005268048.2:p.Gln628GlyfsTer?
XM_005267992.3:c.1875_1876del	XP_005268049.2:p.Gln626GlyfsTer?
XM_011537067.2:c.1824_1825del	XP_011535369.1:p.Gln609GlyfsTer?
XM_011537069.2:c.1872_1873del	XP_011535371.2:p.Gln625GlyfsTer?
XM_011537070.2:c.1728_1729del	XP_011535372.1:p.Gln577GlyfsTer?
XM_011537071.2:c.1782_1783del	XP_011535373.2:p.Gln595GlyfsTer?
XM_011537072.2:c.1674_1675del	XP_011535374.1:p.Gln559GlyfsTer?
XM_017021582.1:c.1932_1933del	XP_016877071.1:p.Gln645GlyfsTer?
XM_017021583.1:c.1923_1924del	XP_016877072.1:p.Gln642GlyfsTer?
XM_017021584.1:c.1842_1843del	XP_016877073.1:p.Gln615GlyfsTer?
XM_017021585.1:c.1791_1792del	XP_016877074.1:p.Gln598GlyfsTer?
XM_017021586.1:c.1467_1468del	XP_016877075.1:p.Gln490GlyfsTer?
XM_017021587.1:c.1467_1468del	XP_016877076.1:p.Gln490GlyfsTer?
XM_017021588.1:c.1467_1468del	XP_016877077.1:p.Gln490GlyfsTer?
NM_001164749.2:c.1773_1774del MANE Select	NP_001158221.1:p.Gln592GlyfsTer?
NM_001165893.2:c.1683_1684del	NP_001159365.1:p.Gln562GlyfsTer?
NM_022123.3:c.1677_1678del	NP_071406.1:p.Gln560GlyfsTer?
NM_173159.3:c.1734_1735del	NP_775182.1:p.Gln579GlyfsTer?
NM_001394988.1:c.1728_1729del	NP_001381917.1:p.Gln577GlyfsTer?
NM_001394989.1:c.1674_1675del	NP_001381918.1:p.Gln559GlyfsTer?