Canonical Allele Identifier: CA7150863

Gene: NPAS3

Linked Data

• dbSNP Id: rs771925513
• ExAC: 14:34269244 CGACAGCGCCAAGGACTCG / C
• gnomAD v2: 14-34269244-CGACAGCGCCAAGGACTCG-C
• MyVariant Identifiers: chr14:g.34269245_34269262del (hg19) ; chr14:g.33800039_33800056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800047_33800064del , CM000676.2:g.33800047_33800064del	GRCh38
NC_000014.8:g.34269253_34269270del , CM000676.1:g.34269253_34269270del	GRCh37
NC_000014.7:g.33339004_33339021del	NCBI36
NG_013036.1:g.865795_865812del
NG_013036.2:g.865795_865812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1740_1757del MANE Select	ENSP00000348460.4:p.Lys581_Ala586del
ENST00000551634.6:c.1749_1766del	ENSP00000448373.2:p.Lys584_Ala589del
ENST00000680362.1:c.1640_1657del
ENST00000681323.1:c.793+2466_793+2483del
ENST00000346562.6:c.1644_1661del	ENSP00000319610.5:p.Lys549_Ala554del
ENST00000356141.8:c.1740_1757del	ENSP00000348460.4:p.Lys581_Ala586del
ENST00000357798.9:c.1701_1718del	ENSP00000350446.5:p.Lys568_Ala573del
ENST00000548645.5:c.1650_1667del	ENSP00000448916.1:p.Lys551_Ala556del
ENST00000551492.5:c.1755_1772del	ENSP00000450392.1:p.Lys586_Ala591del
ENST00000551634.5:c.1662_1679del	ENSP00000448373.1:p.Lys555_Ala560del
NM_001164749.1:c.1740_1757del	NP_001158221.1:p.Lys581_Ala586del
NM_001165893.1:c.1650_1667del	NP_001159365.1:p.Lys551_Ala556del
NM_022123.2:c.1644_1661del	NP_071406.1:p.Lys549_Ala554del
NM_173159.2:c.1701_1718del	NP_775182.1:p.Lys568_Ala573del
XM_005267991.2:c.1761_1778del	XP_005268048.1:p.Lys588_Ala593del
XM_005267992.2:c.1755_1772del	XP_005268049.1:p.Lys586_Ala591del
XM_005267993.2:c.1701_1718del	XP_005268050.1:p.Lys568_Ala573del
XM_011537067.1:c.1791_1808del	XP_011535369.1:p.Lys598_Ala603del
XM_011537068.1:c.1782_1799del	XP_011535370.1:p.Lys595_Ala600del
XM_011537069.1:c.1752_1769del	XP_011535371.1:p.Lys585_Ala590del
XM_011537070.1:c.1695_1712del	XP_011535372.1:p.Lys566_Ala571del
XM_011537071.1:c.1662_1679del	XP_011535373.1:p.Lys555_Ala560del
XM_011537072.1:c.1641_1658del	XP_011535374.1:p.Lys548_Ala553del
XM_011537073.1:c.1434_1451del	XP_011535375.1:p.Lys479_Ala484del
XM_011537074.1:c.1434_1451del	XP_011535376.1:p.Lys479_Ala484del
XM_005267991.3:c.1848_1865del	XP_005268048.2:p.Lys617_Ala622del
XM_005267992.3:c.1842_1859del	XP_005268049.2:p.Lys615_Ala620del
XM_011537067.2:c.1791_1808del	XP_011535369.1:p.Lys598_Ala603del
XM_011537069.2:c.1839_1856del	XP_011535371.2:p.Lys614_Ala619del
XM_011537070.2:c.1695_1712del	XP_011535372.1:p.Lys566_Ala571del
XM_011537071.2:c.1749_1766del	XP_011535373.2:p.Lys584_Ala589del
XM_011537072.2:c.1641_1658del	XP_011535374.1:p.Lys548_Ala553del
XM_017021582.1:c.1899_1916del	XP_016877071.1:p.Lys634_Ala639del
XM_017021583.1:c.1890_1907del	XP_016877072.1:p.Lys631_Ala636del
XM_017021584.1:c.1809_1826del	XP_016877073.1:p.Lys604_Ala609del
XM_017021585.1:c.1758_1775del	XP_016877074.1:p.Lys587_Ala592del
XM_017021586.1:c.1434_1451del	XP_016877075.1:p.Lys479_Ala484del
XM_017021587.1:c.1434_1451del	XP_016877076.1:p.Lys479_Ala484del
XM_017021588.1:c.1434_1451del	XP_016877077.1:p.Lys479_Ala484del
NM_001164749.2:c.1740_1757del MANE Select	NP_001158221.1:p.Lys581_Ala586del
NM_001165893.2:c.1650_1667del	NP_001159365.1:p.Lys551_Ala556del
NM_022123.3:c.1644_1661del	NP_071406.1:p.Lys549_Ala554del
NM_173159.3:c.1701_1718del	NP_775182.1:p.Lys568_Ala573del
NM_001394988.1:c.1695_1712del	NP_001381917.1:p.Lys566_Ala571del
NM_001394989.1:c.1641_1658del	NP_001381918.1:p.Lys548_Ala553del