Canonical Allele Identifier: CA613803860

Gene: NPAS3

Linked Data

• dbSNP Id: rs1447809968
• gnomAD v2: 14-34269316-GA-G
• gnomAD v4: 14-33800110-GA-G
• MyVariant Identifiers: chr14:g.34269317del (hg19) ; chr14:g.33800111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800114del , CM000676.2:g.33800114del	GRCh38
NC_000014.8:g.34269320del , CM000676.1:g.34269320del	GRCh37
NC_000014.7:g.33339071del	NCBI36
NG_013036.1:g.865862del
NG_013036.2:g.865862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1807del MANE Select	ENSP00000348460.4:p.Arg603GlyfsTer?
ENST00000551634.6:c.1816del	ENSP00000448373.2:p.Arg606GlyfsTer?
ENST00000680362.1:c.1707del
ENST00000681323.1:c.793+2533del
ENST00000346562.6:c.1711del	ENSP00000319610.5:p.Arg571GlyfsTer?
ENST00000356141.8:c.1807del	ENSP00000348460.4:p.Arg603GlyfsTer?
ENST00000357798.9:c.1768del	ENSP00000350446.5:p.Arg590GlyfsTer?
ENST00000548645.5:c.1717del	ENSP00000448916.1:p.Arg573GlyfsTer?
ENST00000551492.5:c.1822del	ENSP00000450392.1:p.Arg608GlyfsTer?
ENST00000551634.5:c.1729del	ENSP00000448373.1:p.Arg577GlyfsTer?
NM_001164749.1:c.1807del	NP_001158221.1:p.Arg603GlyfsTer?
NM_001165893.1:c.1717del	NP_001159365.1:p.Arg573GlyfsTer?
NM_022123.2:c.1711del	NP_071406.1:p.Arg571GlyfsTer?
NM_173159.2:c.1768del	NP_775182.1:p.Arg590GlyfsTer?
XM_005267991.2:c.1828del	XP_005268048.1:p.Arg610GlyfsTer?
XM_005267992.2:c.1822del	XP_005268049.1:p.Arg608GlyfsTer?
XM_005267993.2:c.1768del	XP_005268050.1:p.Arg590GlyfsTer?
XM_011537067.1:c.1858del	XP_011535369.1:p.Arg620GlyfsTer?
XM_011537068.1:c.1849del	XP_011535370.1:p.Arg617GlyfsTer?
XM_011537069.1:c.1819del	XP_011535371.1:p.Arg607GlyfsTer?
XM_011537070.1:c.1762del	XP_011535372.1:p.Arg588GlyfsTer?
XM_011537071.1:c.1729del	XP_011535373.1:p.Arg577GlyfsTer?
XM_011537072.1:c.1708del	XP_011535374.1:p.Arg570GlyfsTer?
XM_011537073.1:c.1501del	XP_011535375.1:p.Arg501GlyfsTer?
XM_011537074.1:c.1501del	XP_011535376.1:p.Arg501GlyfsTer?
XM_005267991.3:c.1915del	XP_005268048.2:p.Arg639GlyfsTer?
XM_005267992.3:c.1909del	XP_005268049.2:p.Arg637GlyfsTer?
XM_011537067.2:c.1858del	XP_011535369.1:p.Arg620GlyfsTer?
XM_011537069.2:c.1906del	XP_011535371.2:p.Arg636GlyfsTer?
XM_011537070.2:c.1762del	XP_011535372.1:p.Arg588GlyfsTer?
XM_011537071.2:c.1816del	XP_011535373.2:p.Arg606GlyfsTer?
XM_011537072.2:c.1708del	XP_011535374.1:p.Arg570GlyfsTer?
XM_017021582.1:c.1966del	XP_016877071.1:p.Arg656GlyfsTer?
XM_017021583.1:c.1957del	XP_016877072.1:p.Arg653GlyfsTer?
XM_017021584.1:c.1876del	XP_016877073.1:p.Arg626GlyfsTer?
XM_017021585.1:c.1825del	XP_016877074.1:p.Arg609GlyfsTer?
XM_017021586.1:c.1501del	XP_016877075.1:p.Arg501GlyfsTer?
XM_017021587.1:c.1501del	XP_016877076.1:p.Arg501GlyfsTer?
XM_017021588.1:c.1501del	XP_016877077.1:p.Arg501GlyfsTer?
NM_001164749.2:c.1807del MANE Select	NP_001158221.1:p.Arg603GlyfsTer?
NM_001165893.2:c.1717del	NP_001159365.1:p.Arg573GlyfsTer?
NM_022123.3:c.1711del	NP_071406.1:p.Arg571GlyfsTer?
NM_173159.3:c.1768del	NP_775182.1:p.Arg590GlyfsTer?
NM_001394988.1:c.1762del	NP_001381917.1:p.Arg588GlyfsTer?
NM_001394989.1:c.1708del	NP_001381918.1:p.Arg570GlyfsTer?