Canonical Allele Identifier: CA2624512042

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800523-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800525del , CM000676.2:g.33800525del	GRCh38
NC_000014.8:g.34269731del , CM000676.1:g.34269731del	GRCh37
NC_000014.7:g.33339482del	NCBI36
NG_013036.1:g.866273del
NG_013036.2:g.866273del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2218del MANE Select	ENSP00000348460.4:p.Ala740ProfsTer?
ENST00000551634.6:c.2227del	ENSP00000448373.2:p.Ala743ProfsTer?
ENST00000680362.1:c.2118del
ENST00000681323.1:c.793+2944del
ENST00000346562.6:c.2122del	ENSP00000319610.5:p.Ala708ProfsTer?
ENST00000356141.8:c.2218del	ENSP00000348460.4:p.Ala740ProfsTer?
ENST00000357798.9:c.2179del	ENSP00000350446.5:p.Ala727ProfsTer?
ENST00000548645.5:c.2128del	ENSP00000448916.1:p.Ala710ProfsTer?
ENST00000551492.5:c.2233del	ENSP00000450392.1:p.Ala745ProfsTer?
ENST00000551634.5:c.2140del	ENSP00000448373.1:p.Ala714ProfsTer?
NM_001164749.1:c.2218del	NP_001158221.1:p.Ala740ProfsTer?
NM_001165893.1:c.2128del	NP_001159365.1:p.Ala710ProfsTer?
NM_022123.2:c.2122del	NP_071406.1:p.Ala708ProfsTer?
NM_173159.2:c.2179del	NP_775182.1:p.Ala727ProfsTer?
XM_005267991.2:c.2239del	XP_005268048.1:p.Ala747ProfsTer?
XM_005267992.2:c.2233del	XP_005268049.1:p.Ala745ProfsTer?
XM_005267993.2:c.2179del	XP_005268050.1:p.Ala727ProfsTer?
XM_011537067.1:c.2269del	XP_011535369.1:p.Ala757ProfsTer?
XM_011537068.1:c.2260del	XP_011535370.1:p.Ala754ProfsTer?
XM_011537069.1:c.2230del	XP_011535371.1:p.Ala744ProfsTer?
XM_011537070.1:c.2173del	XP_011535372.1:p.Ala725ProfsTer?
XM_011537071.1:c.2140del	XP_011535373.1:p.Ala714ProfsTer?
XM_011537072.1:c.2119del	XP_011535374.1:p.Ala707ProfsTer?
XM_011537073.1:c.1912del	XP_011535375.1:p.Ala638ProfsTer?
XM_011537074.1:c.1912del	XP_011535376.1:p.Ala638ProfsTer?
XM_005267991.3:c.2326del	XP_005268048.2:p.Ala776ProfsTer?
XM_005267992.3:c.2320del	XP_005268049.2:p.Ala774ProfsTer?
XM_011537067.2:c.2269del	XP_011535369.1:p.Ala757ProfsTer?
XM_011537069.2:c.2317del	XP_011535371.2:p.Ala773ProfsTer?
XM_011537070.2:c.2173del	XP_011535372.1:p.Ala725ProfsTer?
XM_011537071.2:c.2227del	XP_011535373.2:p.Ala743ProfsTer?
XM_011537072.2:c.2119del	XP_011535374.1:p.Ala707ProfsTer?
XM_017021582.1:c.2377del	XP_016877071.1:p.Ala793ProfsTer?
XM_017021583.1:c.2368del	XP_016877072.1:p.Ala790ProfsTer?
XM_017021584.1:c.2287del	XP_016877073.1:p.Ala763ProfsTer?
XM_017021585.1:c.2236del	XP_016877074.1:p.Ala746ProfsTer?
XM_017021586.1:c.1912del	XP_016877075.1:p.Ala638ProfsTer?
XM_017021587.1:c.1912del	XP_016877076.1:p.Ala638ProfsTer?
XM_017021588.1:c.1912del	XP_016877077.1:p.Ala638ProfsTer?
NM_001164749.2:c.2218del MANE Select	NP_001158221.1:p.Ala740ProfsTer?
NM_001165893.2:c.2128del	NP_001159365.1:p.Ala710ProfsTer?
NM_022123.3:c.2122del	NP_071406.1:p.Ala708ProfsTer?
NM_173159.3:c.2179del	NP_775182.1:p.Ala727ProfsTer?
NM_001394988.1:c.2173del	NP_001381917.1:p.Ala725ProfsTer?
NM_001394989.1:c.2119del	NP_001381918.1:p.Ala707ProfsTer?