Canonical Allele Identifier: CA2624512027

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800126-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800130del , CM000676.2:g.33800130del	GRCh38
NC_000014.8:g.34269336del , CM000676.1:g.34269336del	GRCh37
NC_000014.7:g.33339087del	NCBI36
NG_013036.1:g.865878del
NG_013036.2:g.865878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1823del MANE Select	ENSP00000348460.4:p.Lys608ArgfsTer?
ENST00000551634.6:c.1832del	ENSP00000448373.2:p.Lys611ArgfsTer?
ENST00000680362.1:c.1723del
ENST00000681323.1:c.793+2549del
ENST00000346562.6:c.1727del	ENSP00000319610.5:p.Lys576ArgfsTer?
ENST00000356141.8:c.1823del	ENSP00000348460.4:p.Lys608ArgfsTer?
ENST00000357798.9:c.1784del	ENSP00000350446.5:p.Lys595ArgfsTer?
ENST00000548645.5:c.1733del	ENSP00000448916.1:p.Lys578ArgfsTer?
ENST00000551492.5:c.1838del	ENSP00000450392.1:p.Lys613ArgfsTer?
ENST00000551634.5:c.1745del	ENSP00000448373.1:p.Lys582ArgfsTer?
NM_001164749.1:c.1823del	NP_001158221.1:p.Lys608ArgfsTer?
NM_001165893.1:c.1733del	NP_001159365.1:p.Lys578ArgfsTer?
NM_022123.2:c.1727del	NP_071406.1:p.Lys576ArgfsTer?
NM_173159.2:c.1784del	NP_775182.1:p.Lys595ArgfsTer?
XM_005267991.2:c.1844del	XP_005268048.1:p.Lys615ArgfsTer?
XM_005267992.2:c.1838del	XP_005268049.1:p.Lys613ArgfsTer?
XM_005267993.2:c.1784del	XP_005268050.1:p.Lys595ArgfsTer?
XM_011537067.1:c.1874del	XP_011535369.1:p.Lys625ArgfsTer?
XM_011537068.1:c.1865del	XP_011535370.1:p.Lys622ArgfsTer?
XM_011537069.1:c.1835del	XP_011535371.1:p.Lys612ArgfsTer?
XM_011537070.1:c.1778del	XP_011535372.1:p.Lys593ArgfsTer?
XM_011537071.1:c.1745del	XP_011535373.1:p.Lys582ArgfsTer?
XM_011537072.1:c.1724del	XP_011535374.1:p.Lys575ArgfsTer?
XM_011537073.1:c.1517del	XP_011535375.1:p.Lys506ArgfsTer?
XM_011537074.1:c.1517del	XP_011535376.1:p.Lys506ArgfsTer?
XM_005267991.3:c.1931del	XP_005268048.2:p.Lys644ArgfsTer?
XM_005267992.3:c.1925del	XP_005268049.2:p.Lys642ArgfsTer?
XM_011537067.2:c.1874del	XP_011535369.1:p.Lys625ArgfsTer?
XM_011537069.2:c.1922del	XP_011535371.2:p.Lys641ArgfsTer?
XM_011537070.2:c.1778del	XP_011535372.1:p.Lys593ArgfsTer?
XM_011537071.2:c.1832del	XP_011535373.2:p.Lys611ArgfsTer?
XM_011537072.2:c.1724del	XP_011535374.1:p.Lys575ArgfsTer?
XM_017021582.1:c.1982del	XP_016877071.1:p.Lys661ArgfsTer?
XM_017021583.1:c.1973del	XP_016877072.1:p.Lys658ArgfsTer?
XM_017021584.1:c.1892del	XP_016877073.1:p.Lys631ArgfsTer?
XM_017021585.1:c.1841del	XP_016877074.1:p.Lys614ArgfsTer?
XM_017021586.1:c.1517del	XP_016877075.1:p.Lys506ArgfsTer?
XM_017021587.1:c.1517del	XP_016877076.1:p.Lys506ArgfsTer?
XM_017021588.1:c.1517del	XP_016877077.1:p.Lys506ArgfsTer?
NM_001164749.2:c.1823del MANE Select	NP_001158221.1:p.Lys608ArgfsTer?
NM_001165893.2:c.1733del	NP_001159365.1:p.Lys578ArgfsTer?
NM_022123.3:c.1727del	NP_071406.1:p.Lys576ArgfsTer?
NM_173159.3:c.1784del	NP_775182.1:p.Lys595ArgfsTer?
NM_001394988.1:c.1778del	NP_001381917.1:p.Lys593ArgfsTer?
NM_001394989.1:c.1724del	NP_001381918.1:p.Lys575ArgfsTer?