Canonical Allele Identifier: CA7150883

Gene: NPAS3

Linked Data

• dbSNP Id: rs775282710
• ExAC: 14:34269332 CAA / C
• MyVariant Identifiers: chr14:g.34269333_34269334del (hg19) ; chr14:g.33800127_33800128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800129_33800130del , CM000676.2:g.33800129_33800130del	GRCh38
NC_000014.8:g.34269335_34269336del , CM000676.1:g.34269335_34269336del	GRCh37
NC_000014.7:g.33339086_33339087del	NCBI36
NG_013036.1:g.865877_865878del
NG_013036.2:g.865877_865878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1822_1823del MANE Select	ENSP00000348460.4:p.Lys608GlyfsTer?
ENST00000551634.6:c.1831_1832del	ENSP00000448373.2:p.Lys611GlyfsTer?
ENST00000680362.1:c.1722_1723del
ENST00000681323.1:c.793+2548_793+2549del
ENST00000346562.6:c.1726_1727del	ENSP00000319610.5:p.Lys576GlyfsTer?
ENST00000356141.8:c.1822_1823del	ENSP00000348460.4:p.Lys608GlyfsTer?
ENST00000357798.9:c.1783_1784del	ENSP00000350446.5:p.Lys595GlyfsTer?
ENST00000548645.5:c.1732_1733del	ENSP00000448916.1:p.Lys578GlyfsTer?
ENST00000551492.5:c.1837_1838del	ENSP00000450392.1:p.Lys613GlyfsTer?
ENST00000551634.5:c.1744_1745del	ENSP00000448373.1:p.Lys582GlyfsTer?
NM_001164749.1:c.1822_1823del	NP_001158221.1:p.Lys608GlyfsTer?
NM_001165893.1:c.1732_1733del	NP_001159365.1:p.Lys578GlyfsTer?
NM_022123.2:c.1726_1727del	NP_071406.1:p.Lys576GlyfsTer?
NM_173159.2:c.1783_1784del	NP_775182.1:p.Lys595GlyfsTer?
XM_005267991.2:c.1843_1844del	XP_005268048.1:p.Lys615GlyfsTer?
XM_005267992.2:c.1837_1838del	XP_005268049.1:p.Lys613GlyfsTer?
XM_005267993.2:c.1783_1784del	XP_005268050.1:p.Lys595GlyfsTer?
XM_011537067.1:c.1873_1874del	XP_011535369.1:p.Lys625GlyfsTer?
XM_011537068.1:c.1864_1865del	XP_011535370.1:p.Lys622GlyfsTer?
XM_011537069.1:c.1834_1835del	XP_011535371.1:p.Lys612GlyfsTer?
XM_011537070.1:c.1777_1778del	XP_011535372.1:p.Lys593GlyfsTer?
XM_011537071.1:c.1744_1745del	XP_011535373.1:p.Lys582GlyfsTer?
XM_011537072.1:c.1723_1724del	XP_011535374.1:p.Lys575GlyfsTer?
XM_011537073.1:c.1516_1517del	XP_011535375.1:p.Lys506GlyfsTer?
XM_011537074.1:c.1516_1517del	XP_011535376.1:p.Lys506GlyfsTer?
XM_005267991.3:c.1930_1931del	XP_005268048.2:p.Lys644GlyfsTer?
XM_005267992.3:c.1924_1925del	XP_005268049.2:p.Lys642GlyfsTer?
XM_011537067.2:c.1873_1874del	XP_011535369.1:p.Lys625GlyfsTer?
XM_011537069.2:c.1921_1922del	XP_011535371.2:p.Lys641GlyfsTer?
XM_011537070.2:c.1777_1778del	XP_011535372.1:p.Lys593GlyfsTer?
XM_011537071.2:c.1831_1832del	XP_011535373.2:p.Lys611GlyfsTer?
XM_011537072.2:c.1723_1724del	XP_011535374.1:p.Lys575GlyfsTer?
XM_017021582.1:c.1981_1982del	XP_016877071.1:p.Lys661GlyfsTer?
XM_017021583.1:c.1972_1973del	XP_016877072.1:p.Lys658GlyfsTer?
XM_017021584.1:c.1891_1892del	XP_016877073.1:p.Lys631GlyfsTer?
XM_017021585.1:c.1840_1841del	XP_016877074.1:p.Lys614GlyfsTer?
XM_017021586.1:c.1516_1517del	XP_016877075.1:p.Lys506GlyfsTer?
XM_017021587.1:c.1516_1517del	XP_016877076.1:p.Lys506GlyfsTer?
XM_017021588.1:c.1516_1517del	XP_016877077.1:p.Lys506GlyfsTer?
NM_001164749.2:c.1822_1823del MANE Select	NP_001158221.1:p.Lys608GlyfsTer?
NM_001165893.2:c.1732_1733del	NP_001159365.1:p.Lys578GlyfsTer?
NM_022123.3:c.1726_1727del	NP_071406.1:p.Lys576GlyfsTer?
NM_173159.3:c.1783_1784del	NP_775182.1:p.Lys595GlyfsTer?
NM_001394988.1:c.1777_1778del	NP_001381917.1:p.Lys593GlyfsTer?
NM_001394989.1:c.1723_1724del	NP_001381918.1:p.Lys575GlyfsTer?