Canonical Allele Identifier: CA2729381255
Gene: NPAS3 HGNC NCBI

Linked Data

dbSNP Id: rs2138688373

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800360_33800361insA , CM000676.2:g.33800360_33800361insA GRCh38
NC_000014.8:g.34269566_34269567insA , CM000676.1:g.34269566_34269567insA GRCh37
NC_000014.7:g.33339317_33339318insA NCBI36
NG_013036.1:g.866108_866109insA
NG_013036.2:g.866108_866109insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.2053_2054insA MANE Select ENSP00000348460.4:p.Pro685HisfsTer5
ENST00000551634.6:c.2062_2063insA ENSP00000448373.2:p.Pro688HisfsTer5
ENST00000680362.1:c.1953_1954insA
ENST00000681323.1:c.793+2779_793+2780insA
ENST00000346562.6:c.1957_1958insA ENSP00000319610.5:p.Pro653HisfsTer5
ENST00000356141.8:c.2053_2054insA ENSP00000348460.4:p.Pro685HisfsTer5
ENST00000357798.9:c.2014_2015insA ENSP00000350446.5:p.Pro672HisfsTer5
ENST00000548645.5:c.1963_1964insA ENSP00000448916.1:p.Pro655HisfsTer5
ENST00000551492.5:c.2068_2069insA ENSP00000450392.1:p.Pro690HisfsTer5
ENST00000551634.5:c.1975_1976insA ENSP00000448373.1:p.Pro659HisfsTer5
NM_001164749.1:c.2053_2054insA NP_001158221.1:p.Pro685HisfsTer5
NM_001165893.1:c.1963_1964insA NP_001159365.1:p.Pro655HisfsTer5
NM_022123.2:c.1957_1958insA NP_071406.1:p.Pro653HisfsTer5
NM_173159.2:c.2014_2015insA NP_775182.1:p.Pro672HisfsTer5
XM_005267991.2:c.2074_2075insA XP_005268048.1:p.Pro692HisfsTer5
XM_005267992.2:c.2068_2069insA XP_005268049.1:p.Pro690HisfsTer5
XM_005267993.2:c.2014_2015insA XP_005268050.1:p.Pro672HisfsTer5
XM_011537067.1:c.2104_2105insA XP_011535369.1:p.Pro702HisfsTer5
XM_011537068.1:c.2095_2096insA XP_011535370.1:p.Pro699HisfsTer5
XM_011537069.1:c.2065_2066insA XP_011535371.1:p.Pro689HisfsTer5
XM_011537070.1:c.2008_2009insA XP_011535372.1:p.Pro670HisfsTer5
XM_011537071.1:c.1975_1976insA XP_011535373.1:p.Pro659HisfsTer5
XM_011537072.1:c.1954_1955insA XP_011535374.1:p.Pro652HisfsTer5
XM_011537073.1:c.1747_1748insA XP_011535375.1:p.Pro583HisfsTer5
XM_011537074.1:c.1747_1748insA XP_011535376.1:p.Pro583HisfsTer5
XM_005267991.3:c.2161_2162insA XP_005268048.2:p.Pro721HisfsTer5
XM_005267992.3:c.2155_2156insA XP_005268049.2:p.Pro719HisfsTer5
XM_011537067.2:c.2104_2105insA XP_011535369.1:p.Pro702HisfsTer5
XM_011537069.2:c.2152_2153insA XP_011535371.2:p.Pro718HisfsTer5
XM_011537070.2:c.2008_2009insA XP_011535372.1:p.Pro670HisfsTer5
XM_011537071.2:c.2062_2063insA XP_011535373.2:p.Pro688HisfsTer5
XM_011537072.2:c.1954_1955insA XP_011535374.1:p.Pro652HisfsTer5
XM_017021582.1:c.2212_2213insA XP_016877071.1:p.Pro738HisfsTer5
XM_017021583.1:c.2203_2204insA XP_016877072.1:p.Pro735HisfsTer5
XM_017021584.1:c.2122_2123insA XP_016877073.1:p.Pro708HisfsTer5
XM_017021585.1:c.2071_2072insA XP_016877074.1:p.Pro691HisfsTer5
XM_017021586.1:c.1747_1748insA XP_016877075.1:p.Pro583HisfsTer5
XM_017021587.1:c.1747_1748insA XP_016877076.1:p.Pro583HisfsTer5
XM_017021588.1:c.1747_1748insA XP_016877077.1:p.Pro583HisfsTer5
NM_001164749.2:c.2053_2054insA MANE Select NP_001158221.1:p.Pro685HisfsTer5
NM_001165893.2:c.1963_1964insA NP_001159365.1:p.Pro655HisfsTer5
NM_022123.3:c.1957_1958insA NP_071406.1:p.Pro653HisfsTer5
NM_173159.3:c.2014_2015insA NP_775182.1:p.Pro672HisfsTer5
NM_001394988.1:c.2008_2009insA NP_001381917.1:p.Pro670HisfsTer5
NM_001394989.1:c.1954_1955insA NP_001381918.1:p.Pro652HisfsTer5