Canonical Allele Identifier: CA2575504024

Gene: NPAS3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800371_33800372del , CM000676.2:g.33800371_33800372del	GRCh38
NC_000014.8:g.34269577_34269578del , CM000676.1:g.34269577_34269578del	GRCh37
NC_000014.7:g.33339328_33339329del	NCBI36
NG_013036.1:g.866119_866120del
NG_013036.2:g.866119_866120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2064_2065del MANE Select	ENSP00000348460.4:p.Glu689AlafsTer?
ENST00000551634.6:c.2073_2074del	ENSP00000448373.2:p.Glu692AlafsTer?
ENST00000680362.1:c.1964_1965del
ENST00000681323.1:c.793+2790_793+2791del
ENST00000346562.6:c.1968_1969del	ENSP00000319610.5:p.Glu657AlafsTer?
ENST00000356141.8:c.2064_2065del	ENSP00000348460.4:p.Glu689AlafsTer?
ENST00000357798.9:c.2025_2026del	ENSP00000350446.5:p.Glu676AlafsTer?
ENST00000548645.5:c.1974_1975del	ENSP00000448916.1:p.Glu659AlafsTer?
ENST00000551492.5:c.2079_2080del	ENSP00000450392.1:p.Glu694AlafsTer?
ENST00000551634.5:c.1986_1987del	ENSP00000448373.1:p.Glu663AlafsTer?
NM_001164749.1:c.2064_2065del	NP_001158221.1:p.Glu689AlafsTer?
NM_001165893.1:c.1974_1975del	NP_001159365.1:p.Glu659AlafsTer?
NM_022123.2:c.1968_1969del	NP_071406.1:p.Glu657AlafsTer?
NM_173159.2:c.2025_2026del	NP_775182.1:p.Glu676AlafsTer?
XM_005267991.2:c.2085_2086del	XP_005268048.1:p.Glu696AlafsTer?
XM_005267992.2:c.2079_2080del	XP_005268049.1:p.Glu694AlafsTer?
XM_005267993.2:c.2025_2026del	XP_005268050.1:p.Glu676AlafsTer?
XM_011537067.1:c.2115_2116del	XP_011535369.1:p.Glu706AlafsTer?
XM_011537068.1:c.2106_2107del	XP_011535370.1:p.Glu703AlafsTer?
XM_011537069.1:c.2076_2077del	XP_011535371.1:p.Glu693AlafsTer?
XM_011537070.1:c.2019_2020del	XP_011535372.1:p.Glu674AlafsTer?
XM_011537071.1:c.1986_1987del	XP_011535373.1:p.Glu663AlafsTer?
XM_011537072.1:c.1965_1966del	XP_011535374.1:p.Glu656AlafsTer?
XM_011537073.1:c.1758_1759del	XP_011535375.1:p.Glu587AlafsTer?
XM_011537074.1:c.1758_1759del	XP_011535376.1:p.Glu587AlafsTer?
XM_005267991.3:c.2172_2173del	XP_005268048.2:p.Glu725AlafsTer?
XM_005267992.3:c.2166_2167del	XP_005268049.2:p.Glu723AlafsTer?
XM_011537067.2:c.2115_2116del	XP_011535369.1:p.Glu706AlafsTer?
XM_011537069.2:c.2163_2164del	XP_011535371.2:p.Glu722AlafsTer?
XM_011537070.2:c.2019_2020del	XP_011535372.1:p.Glu674AlafsTer?
XM_011537071.2:c.2073_2074del	XP_011535373.2:p.Glu692AlafsTer?
XM_011537072.2:c.1965_1966del	XP_011535374.1:p.Glu656AlafsTer?
XM_017021582.1:c.2223_2224del	XP_016877071.1:p.Glu742AlafsTer?
XM_017021583.1:c.2214_2215del	XP_016877072.1:p.Glu739AlafsTer?
XM_017021584.1:c.2133_2134del	XP_016877073.1:p.Glu712AlafsTer?
XM_017021585.1:c.2082_2083del	XP_016877074.1:p.Glu695AlafsTer?
XM_017021586.1:c.1758_1759del	XP_016877075.1:p.Glu587AlafsTer?
XM_017021587.1:c.1758_1759del	XP_016877076.1:p.Glu587AlafsTer?
XM_017021588.1:c.1758_1759del	XP_016877077.1:p.Glu587AlafsTer?
NM_001164749.2:c.2064_2065del MANE Select	NP_001158221.1:p.Glu689AlafsTer?
NM_001165893.2:c.1974_1975del	NP_001159365.1:p.Glu659AlafsTer?
NM_022123.3:c.1968_1969del	NP_071406.1:p.Glu657AlafsTer?
NM_173159.3:c.2025_2026del	NP_775182.1:p.Glu676AlafsTer?
NM_001394988.1:c.2019_2020del	NP_001381917.1:p.Glu674AlafsTer?
NM_001394989.1:c.1965_1966del	NP_001381918.1:p.Glu656AlafsTer?