Canonical Allele Identifier: CA961818357

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063655459
• gnomAD v3: 14-33800238-CG-C
• gnomAD v4: 14-33800238-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800240del , CM000676.2:g.33800240del	GRCh38
NC_000014.8:g.34269446del , CM000676.1:g.34269446del	GRCh37
NC_000014.7:g.33339197del	NCBI36
NG_013036.1:g.865988del
NG_013036.2:g.865988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1933del MANE Select	ENSP00000348460.4:p.Val645CysfsTer?
ENST00000551634.6:c.1942del	ENSP00000448373.2:p.Val648CysfsTer?
ENST00000680362.1:c.1833del
ENST00000681323.1:c.793+2659del
ENST00000346562.6:c.1837del	ENSP00000319610.5:p.Val613CysfsTer?
ENST00000356141.8:c.1933del	ENSP00000348460.4:p.Val645CysfsTer?
ENST00000357798.9:c.1894del	ENSP00000350446.5:p.Val632CysfsTer?
ENST00000548645.5:c.1843del	ENSP00000448916.1:p.Val615CysfsTer?
ENST00000551492.5:c.1948del	ENSP00000450392.1:p.Val650CysfsTer?
ENST00000551634.5:c.1855del	ENSP00000448373.1:p.Val619CysfsTer?
NM_001164749.1:c.1933del	NP_001158221.1:p.Val645CysfsTer?
NM_001165893.1:c.1843del	NP_001159365.1:p.Val615CysfsTer?
NM_022123.2:c.1837del	NP_071406.1:p.Val613CysfsTer?
NM_173159.2:c.1894del	NP_775182.1:p.Val632CysfsTer?
XM_005267991.2:c.1954del	XP_005268048.1:p.Val652CysfsTer?
XM_005267992.2:c.1948del	XP_005268049.1:p.Val650CysfsTer?
XM_005267993.2:c.1894del	XP_005268050.1:p.Val632CysfsTer?
XM_011537067.1:c.1984del	XP_011535369.1:p.Val662CysfsTer?
XM_011537068.1:c.1975del	XP_011535370.1:p.Val659CysfsTer?
XM_011537069.1:c.1945del	XP_011535371.1:p.Val649CysfsTer?
XM_011537070.1:c.1888del	XP_011535372.1:p.Val630CysfsTer?
XM_011537071.1:c.1855del	XP_011535373.1:p.Val619CysfsTer?
XM_011537072.1:c.1834del	XP_011535374.1:p.Val612CysfsTer?
XM_011537073.1:c.1627del	XP_011535375.1:p.Val543CysfsTer?
XM_011537074.1:c.1627del	XP_011535376.1:p.Val543CysfsTer?
XM_005267991.3:c.2041del	XP_005268048.2:p.Val681CysfsTer?
XM_005267992.3:c.2035del	XP_005268049.2:p.Val679CysfsTer?
XM_011537067.2:c.1984del	XP_011535369.1:p.Val662CysfsTer?
XM_011537069.2:c.2032del	XP_011535371.2:p.Val678CysfsTer?
XM_011537070.2:c.1888del	XP_011535372.1:p.Val630CysfsTer?
XM_011537071.2:c.1942del	XP_011535373.2:p.Val648CysfsTer?
XM_011537072.2:c.1834del	XP_011535374.1:p.Val612CysfsTer?
XM_017021582.1:c.2092del	XP_016877071.1:p.Val698CysfsTer?
XM_017021583.1:c.2083del	XP_016877072.1:p.Val695CysfsTer?
XM_017021584.1:c.2002del	XP_016877073.1:p.Val668CysfsTer?
XM_017021585.1:c.1951del	XP_016877074.1:p.Val651CysfsTer?
XM_017021586.1:c.1627del	XP_016877075.1:p.Val543CysfsTer?
XM_017021587.1:c.1627del	XP_016877076.1:p.Val543CysfsTer?
XM_017021588.1:c.1627del	XP_016877077.1:p.Val543CysfsTer?
NM_001164749.2:c.1933del MANE Select	NP_001158221.1:p.Val645CysfsTer?
NM_001165893.2:c.1843del	NP_001159365.1:p.Val615CysfsTer?
NM_022123.3:c.1837del	NP_071406.1:p.Val613CysfsTer?
NM_173159.3:c.1894del	NP_775182.1:p.Val632CysfsTer?
NM_001394988.1:c.1888del	NP_001381917.1:p.Val630CysfsTer?
NM_001394989.1:c.1834del	NP_001381918.1:p.Val612CysfsTer?