Canonical Allele Identifier: CA2624512038

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800483-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800486del , CM000676.2:g.33800486del	GRCh38
NC_000014.8:g.34269692del , CM000676.1:g.34269692del	GRCh37
NC_000014.7:g.33339443del	NCBI36
NG_013036.1:g.866234del
NG_013036.2:g.866234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2179del MANE Select	ENSP00000348460.4:p.Arg727AlafsTer?
ENST00000551634.6:c.2188del	ENSP00000448373.2:p.Arg730AlafsTer?
ENST00000680362.1:c.2079del
ENST00000681323.1:c.793+2905del
ENST00000346562.6:c.2083del	ENSP00000319610.5:p.Arg695AlafsTer?
ENST00000356141.8:c.2179del	ENSP00000348460.4:p.Arg727AlafsTer?
ENST00000357798.9:c.2140del	ENSP00000350446.5:p.Arg714AlafsTer?
ENST00000548645.5:c.2089del	ENSP00000448916.1:p.Arg697AlafsTer?
ENST00000551492.5:c.2194del	ENSP00000450392.1:p.Arg732AlafsTer?
ENST00000551634.5:c.2101del	ENSP00000448373.1:p.Arg701AlafsTer?
NM_001164749.1:c.2179del	NP_001158221.1:p.Arg727AlafsTer?
NM_001165893.1:c.2089del	NP_001159365.1:p.Arg697AlafsTer?
NM_022123.2:c.2083del	NP_071406.1:p.Arg695AlafsTer?
NM_173159.2:c.2140del	NP_775182.1:p.Arg714AlafsTer?
XM_005267991.2:c.2200del	XP_005268048.1:p.Arg734AlafsTer?
XM_005267992.2:c.2194del	XP_005268049.1:p.Arg732AlafsTer?
XM_005267993.2:c.2140del	XP_005268050.1:p.Arg714AlafsTer?
XM_011537067.1:c.2230del	XP_011535369.1:p.Arg744AlafsTer?
XM_011537068.1:c.2221del	XP_011535370.1:p.Arg741AlafsTer?
XM_011537069.1:c.2191del	XP_011535371.1:p.Arg731AlafsTer?
XM_011537070.1:c.2134del	XP_011535372.1:p.Arg712AlafsTer?
XM_011537071.1:c.2101del	XP_011535373.1:p.Arg701AlafsTer?
XM_011537072.1:c.2080del	XP_011535374.1:p.Arg694AlafsTer?
XM_011537073.1:c.1873del	XP_011535375.1:p.Arg625AlafsTer?
XM_011537074.1:c.1873del	XP_011535376.1:p.Arg625AlafsTer?
XM_005267991.3:c.2287del	XP_005268048.2:p.Arg763AlafsTer?
XM_005267992.3:c.2281del	XP_005268049.2:p.Arg761AlafsTer?
XM_011537067.2:c.2230del	XP_011535369.1:p.Arg744AlafsTer?
XM_011537069.2:c.2278del	XP_011535371.2:p.Arg760AlafsTer?
XM_011537070.2:c.2134del	XP_011535372.1:p.Arg712AlafsTer?
XM_011537071.2:c.2188del	XP_011535373.2:p.Arg730AlafsTer?
XM_011537072.2:c.2080del	XP_011535374.1:p.Arg694AlafsTer?
XM_017021582.1:c.2338del	XP_016877071.1:p.Arg780AlafsTer?
XM_017021583.1:c.2329del	XP_016877072.1:p.Arg777AlafsTer?
XM_017021584.1:c.2248del	XP_016877073.1:p.Arg750AlafsTer?
XM_017021585.1:c.2197del	XP_016877074.1:p.Arg733AlafsTer?
XM_017021586.1:c.1873del	XP_016877075.1:p.Arg625AlafsTer?
XM_017021587.1:c.1873del	XP_016877076.1:p.Arg625AlafsTer?
XM_017021588.1:c.1873del	XP_016877077.1:p.Arg625AlafsTer?
NM_001164749.2:c.2179del MANE Select	NP_001158221.1:p.Arg727AlafsTer?
NM_001165893.2:c.2089del	NP_001159365.1:p.Arg697AlafsTer?
NM_022123.3:c.2083del	NP_071406.1:p.Arg695AlafsTer?
NM_173159.3:c.2140del	NP_775182.1:p.Arg714AlafsTer?
NM_001394988.1:c.2134del	NP_001381917.1:p.Arg712AlafsTer?
NM_001394989.1:c.2080del	NP_001381918.1:p.Arg694AlafsTer?