Canonical Allele Identifier: CA2624512037

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800481-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800483_33800484del , CM000676.2:g.33800483_33800484del	GRCh38
NC_000014.8:g.34269689_34269690del , CM000676.1:g.34269689_34269690del	GRCh37
NC_000014.7:g.33339440_33339441del	NCBI36
NG_013036.1:g.866231_866232del
NG_013036.2:g.866231_866232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2176_2177del MANE Select	ENSP00000348460.4:p.Ala726ProfsTer?
ENST00000551634.6:c.2185_2186del	ENSP00000448373.2:p.Ala729ProfsTer?
ENST00000680362.1:c.2076_2077del
ENST00000681323.1:c.793+2902_793+2903del
ENST00000346562.6:c.2080_2081del	ENSP00000319610.5:p.Ala694ProfsTer?
ENST00000356141.8:c.2176_2177del	ENSP00000348460.4:p.Ala726ProfsTer?
ENST00000357798.9:c.2137_2138del	ENSP00000350446.5:p.Ala713ProfsTer?
ENST00000548645.5:c.2086_2087del	ENSP00000448916.1:p.Ala696ProfsTer?
ENST00000551492.5:c.2191_2192del	ENSP00000450392.1:p.Ala731ProfsTer?
ENST00000551634.5:c.2098_2099del	ENSP00000448373.1:p.Ala700ProfsTer?
NM_001164749.1:c.2176_2177del	NP_001158221.1:p.Ala726ProfsTer?
NM_001165893.1:c.2086_2087del	NP_001159365.1:p.Ala696ProfsTer?
NM_022123.2:c.2080_2081del	NP_071406.1:p.Ala694ProfsTer?
NM_173159.2:c.2137_2138del	NP_775182.1:p.Ala713ProfsTer?
XM_005267991.2:c.2197_2198del	XP_005268048.1:p.Ala733ProfsTer?
XM_005267992.2:c.2191_2192del	XP_005268049.1:p.Ala731ProfsTer?
XM_005267993.2:c.2137_2138del	XP_005268050.1:p.Ala713ProfsTer?
XM_011537067.1:c.2227_2228del	XP_011535369.1:p.Ala743ProfsTer?
XM_011537068.1:c.2218_2219del	XP_011535370.1:p.Ala740ProfsTer?
XM_011537069.1:c.2188_2189del	XP_011535371.1:p.Ala730ProfsTer?
XM_011537070.1:c.2131_2132del	XP_011535372.1:p.Ala711ProfsTer?
XM_011537071.1:c.2098_2099del	XP_011535373.1:p.Ala700ProfsTer?
XM_011537072.1:c.2077_2078del	XP_011535374.1:p.Ala693ProfsTer?
XM_011537073.1:c.1870_1871del	XP_011535375.1:p.Ala624ProfsTer?
XM_011537074.1:c.1870_1871del	XP_011535376.1:p.Ala624ProfsTer?
XM_005267991.3:c.2284_2285del	XP_005268048.2:p.Ala762ProfsTer?
XM_005267992.3:c.2278_2279del	XP_005268049.2:p.Ala760ProfsTer?
XM_011537067.2:c.2227_2228del	XP_011535369.1:p.Ala743ProfsTer?
XM_011537069.2:c.2275_2276del	XP_011535371.2:p.Ala759ProfsTer?
XM_011537070.2:c.2131_2132del	XP_011535372.1:p.Ala711ProfsTer?
XM_011537071.2:c.2185_2186del	XP_011535373.2:p.Ala729ProfsTer?
XM_011537072.2:c.2077_2078del	XP_011535374.1:p.Ala693ProfsTer?
XM_017021582.1:c.2335_2336del	XP_016877071.1:p.Ala779ProfsTer?
XM_017021583.1:c.2326_2327del	XP_016877072.1:p.Ala776ProfsTer?
XM_017021584.1:c.2245_2246del	XP_016877073.1:p.Ala749ProfsTer?
XM_017021585.1:c.2194_2195del	XP_016877074.1:p.Ala732ProfsTer?
XM_017021586.1:c.1870_1871del	XP_016877075.1:p.Ala624ProfsTer?
XM_017021587.1:c.1870_1871del	XP_016877076.1:p.Ala624ProfsTer?
XM_017021588.1:c.1870_1871del	XP_016877077.1:p.Ala624ProfsTer?
NM_001164749.2:c.2176_2177del MANE Select	NP_001158221.1:p.Ala726ProfsTer?
NM_001165893.2:c.2086_2087del	NP_001159365.1:p.Ala696ProfsTer?
NM_022123.3:c.2080_2081del	NP_071406.1:p.Ala694ProfsTer?
NM_173159.3:c.2137_2138del	NP_775182.1:p.Ala713ProfsTer?
NM_001394988.1:c.2131_2132del	NP_001381917.1:p.Ala711ProfsTer?
NM_001394989.1:c.2077_2078del	NP_001381918.1:p.Ala693ProfsTer?