Canonical Allele Identifier: CA2128327221

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063658051

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800287_33800290del , CM000676.2:g.33800287_33800290del	GRCh38
NC_000014.8:g.34269493_34269496del , CM000676.1:g.34269493_34269496del	GRCh37
NC_000014.7:g.33339244_33339247del	NCBI36
NG_013036.1:g.866035_866038del
NG_013036.2:g.866035_866038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1980_1983del MANE Select	ENSP00000348460.4:p.Asn660LysfsTer22
ENST00000551634.6:c.1989_1992del	ENSP00000448373.2:p.Asn663LysfsTer22
ENST00000680362.1:c.1880_1883del
ENST00000681323.1:c.793+2706_793+2709del
ENST00000346562.6:c.1884_1887del	ENSP00000319610.5:p.Asn628LysfsTer22
ENST00000356141.8:c.1980_1983del	ENSP00000348460.4:p.Asn660LysfsTer22
ENST00000357798.9:c.1941_1944del	ENSP00000350446.5:p.Asn647LysfsTer22
ENST00000548645.5:c.1890_1893del	ENSP00000448916.1:p.Asn630LysfsTer22
ENST00000551492.5:c.1995_1998del	ENSP00000450392.1:p.Asn665LysfsTer22
ENST00000551634.5:c.1902_1905del	ENSP00000448373.1:p.Asn634LysfsTer22
NM_001164749.1:c.1980_1983del	NP_001158221.1:p.Asn660LysfsTer22
NM_001165893.1:c.1890_1893del	NP_001159365.1:p.Asn630LysfsTer22
NM_022123.2:c.1884_1887del	NP_071406.1:p.Asn628LysfsTer22
NM_173159.2:c.1941_1944del	NP_775182.1:p.Asn647LysfsTer22
XM_005267991.2:c.2001_2004del	XP_005268048.1:p.Asn667LysfsTer22
XM_005267992.2:c.1995_1998del	XP_005268049.1:p.Asn665LysfsTer22
XM_005267993.2:c.1941_1944del	XP_005268050.1:p.Asn647LysfsTer22
XM_011537067.1:c.2031_2034del	XP_011535369.1:p.Asn677LysfsTer22
XM_011537068.1:c.2022_2025del	XP_011535370.1:p.Asn674LysfsTer22
XM_011537069.1:c.1992_1995del	XP_011535371.1:p.Asn664LysfsTer22
XM_011537070.1:c.1935_1938del	XP_011535372.1:p.Asn645LysfsTer22
XM_011537071.1:c.1902_1905del	XP_011535373.1:p.Asn634LysfsTer22
XM_011537072.1:c.1881_1884del	XP_011535374.1:p.Asn627LysfsTer22
XM_011537073.1:c.1674_1677del	XP_011535375.1:p.Asn558LysfsTer22
XM_011537074.1:c.1674_1677del	XP_011535376.1:p.Asn558LysfsTer22
XM_005267991.3:c.2088_2091del	XP_005268048.2:p.Asn696LysfsTer22
XM_005267992.3:c.2082_2085del	XP_005268049.2:p.Asn694LysfsTer22
XM_011537067.2:c.2031_2034del	XP_011535369.1:p.Asn677LysfsTer22
XM_011537069.2:c.2079_2082del	XP_011535371.2:p.Asn693LysfsTer22
XM_011537070.2:c.1935_1938del	XP_011535372.1:p.Asn645LysfsTer22
XM_011537071.2:c.1989_1992del	XP_011535373.2:p.Asn663LysfsTer22
XM_011537072.2:c.1881_1884del	XP_011535374.1:p.Asn627LysfsTer22
XM_017021582.1:c.2139_2142del	XP_016877071.1:p.Asn713LysfsTer22
XM_017021583.1:c.2130_2133del	XP_016877072.1:p.Asn710LysfsTer22
XM_017021584.1:c.2049_2052del	XP_016877073.1:p.Asn683LysfsTer22
XM_017021585.1:c.1998_2001del	XP_016877074.1:p.Asn666LysfsTer22
XM_017021586.1:c.1674_1677del	XP_016877075.1:p.Asn558LysfsTer22
XM_017021587.1:c.1674_1677del	XP_016877076.1:p.Asn558LysfsTer22
XM_017021588.1:c.1674_1677del	XP_016877077.1:p.Asn558LysfsTer22
NM_001164749.2:c.1980_1983del MANE Select	NP_001158221.1:p.Asn660LysfsTer22
NM_001165893.2:c.1890_1893del	NP_001159365.1:p.Asn630LysfsTer22
NM_022123.3:c.1884_1887del	NP_071406.1:p.Asn628LysfsTer22
NM_173159.3:c.1941_1944del	NP_775182.1:p.Asn647LysfsTer22
NM_001394988.1:c.1935_1938del	NP_001381917.1:p.Asn645LysfsTer22
NM_001394989.1:c.1881_1884del	NP_001381918.1:p.Asn627LysfsTer22