Canonical Allele Identifier: CA2128326768

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063643220
• gnomAD v4: 14-33800049-AGGACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800054_33800059del , CM000676.2:g.33800054_33800059del	GRCh38
NC_000014.8:g.34269260_34269265del , CM000676.1:g.34269260_34269265del	GRCh37
NC_000014.7:g.33339011_33339016del	NCBI36
NG_013036.1:g.865802_865807del
NG_013036.2:g.865802_865807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1747_1752del MANE Select	ENSP00000348460.4:p.Ser583_Asp584del
ENST00000551634.6:c.1756_1761del	ENSP00000448373.2:p.Ser586_Asp587del
ENST00000680362.1:c.1647_1652del
ENST00000681323.1:c.793+2473_793+2478del
ENST00000346562.6:c.1651_1656del	ENSP00000319610.5:p.Ser551_Asp552del
ENST00000356141.8:c.1747_1752del	ENSP00000348460.4:p.Ser583_Asp584del
ENST00000357798.9:c.1708_1713del	ENSP00000350446.5:p.Ser570_Asp571del
ENST00000548645.5:c.1657_1662del	ENSP00000448916.1:p.Ser553_Asp554del
ENST00000551492.5:c.1762_1767del	ENSP00000450392.1:p.Ser588_Asp589del
ENST00000551634.5:c.1669_1674del	ENSP00000448373.1:p.Ser557_Asp558del
NM_001164749.1:c.1747_1752del	NP_001158221.1:p.Ser583_Asp584del
NM_001165893.1:c.1657_1662del	NP_001159365.1:p.Ser553_Asp554del
NM_022123.2:c.1651_1656del	NP_071406.1:p.Ser551_Asp552del
NM_173159.2:c.1708_1713del	NP_775182.1:p.Ser570_Asp571del
XM_005267991.2:c.1768_1773del	XP_005268048.1:p.Ser590_Asp591del
XM_005267992.2:c.1762_1767del	XP_005268049.1:p.Ser588_Asp589del
XM_005267993.2:c.1708_1713del	XP_005268050.1:p.Ser570_Asp571del
XM_011537067.1:c.1798_1803del	XP_011535369.1:p.Ser600_Asp601del
XM_011537068.1:c.1789_1794del	XP_011535370.1:p.Ser597_Asp598del
XM_011537069.1:c.1759_1764del	XP_011535371.1:p.Ser587_Asp588del
XM_011537070.1:c.1702_1707del	XP_011535372.1:p.Ser568_Asp569del
XM_011537071.1:c.1669_1674del	XP_011535373.1:p.Ser557_Asp558del
XM_011537072.1:c.1648_1653del	XP_011535374.1:p.Ser550_Asp551del
XM_011537073.1:c.1441_1446del	XP_011535375.1:p.Ser481_Asp482del
XM_011537074.1:c.1441_1446del	XP_011535376.1:p.Ser481_Asp482del
XM_005267991.3:c.1855_1860del	XP_005268048.2:p.Ser619_Asp620del
XM_005267992.3:c.1849_1854del	XP_005268049.2:p.Ser617_Asp618del
XM_011537067.2:c.1798_1803del	XP_011535369.1:p.Ser600_Asp601del
XM_011537069.2:c.1846_1851del	XP_011535371.2:p.Ser616_Asp617del
XM_011537070.2:c.1702_1707del	XP_011535372.1:p.Ser568_Asp569del
XM_011537071.2:c.1756_1761del	XP_011535373.2:p.Ser586_Asp587del
XM_011537072.2:c.1648_1653del	XP_011535374.1:p.Ser550_Asp551del
XM_017021582.1:c.1906_1911del	XP_016877071.1:p.Ser636_Asp637del
XM_017021583.1:c.1897_1902del	XP_016877072.1:p.Ser633_Asp634del
XM_017021584.1:c.1816_1821del	XP_016877073.1:p.Ser606_Asp607del
XM_017021585.1:c.1765_1770del	XP_016877074.1:p.Ser589_Asp590del
XM_017021586.1:c.1441_1446del	XP_016877075.1:p.Ser481_Asp482del
XM_017021587.1:c.1441_1446del	XP_016877076.1:p.Ser481_Asp482del
XM_017021588.1:c.1441_1446del	XP_016877077.1:p.Ser481_Asp482del
NM_001164749.2:c.1747_1752del MANE Select	NP_001158221.1:p.Ser583_Asp584del
NM_001165893.2:c.1657_1662del	NP_001159365.1:p.Ser553_Asp554del
NM_022123.3:c.1651_1656del	NP_071406.1:p.Ser551_Asp552del
NM_173159.3:c.1708_1713del	NP_775182.1:p.Ser570_Asp571del
NM_001394988.1:c.1702_1707del	NP_001381917.1:p.Ser568_Asp569del
NM_001394989.1:c.1648_1653del	NP_001381918.1:p.Ser550_Asp551del