Canonical Allele Identifier: CA613803865

Gene: NPAS3

Linked Data

• gnomAD v2: 14-34269731-GC-G
• gnomAD v4: 14-33800525-GC-G
• MyVariant Identifiers: chr14:g.34269732del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800530del , CM000676.2:g.33800530del	GRCh38
NC_000014.8:g.34269736del , CM000676.1:g.34269736del	GRCh37
NC_000014.7:g.33339487del	NCBI36
NG_013036.1:g.866278del
NG_013036.2:g.866278del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2223del MANE Select	ENSP00000348460.4:p.Val742SerfsTer?
ENST00000551634.6:c.2232del	ENSP00000448373.2:p.Val745SerfsTer?
ENST00000680362.1:c.2123del
ENST00000681323.1:c.793+2949del
ENST00000346562.6:c.2127del	ENSP00000319610.5:p.Val710SerfsTer?
ENST00000356141.8:c.2223del	ENSP00000348460.4:p.Val742SerfsTer?
ENST00000357798.9:c.2184del	ENSP00000350446.5:p.Val729SerfsTer?
ENST00000548645.5:c.2133del	ENSP00000448916.1:p.Val712SerfsTer?
ENST00000551492.5:c.2238del	ENSP00000450392.1:p.Val747SerfsTer?
ENST00000551634.5:c.2145del	ENSP00000448373.1:p.Val716SerfsTer?
NM_001164749.1:c.2223del	NP_001158221.1:p.Val742SerfsTer?
NM_001165893.1:c.2133del	NP_001159365.1:p.Val712SerfsTer?
NM_022123.2:c.2127del	NP_071406.1:p.Val710SerfsTer?
NM_173159.2:c.2184del	NP_775182.1:p.Val729SerfsTer?
XM_005267991.2:c.2244del	XP_005268048.1:p.Val749SerfsTer?
XM_005267992.2:c.2238del	XP_005268049.1:p.Val747SerfsTer?
XM_005267993.2:c.2184del	XP_005268050.1:p.Val729SerfsTer?
XM_011537067.1:c.2274del	XP_011535369.1:p.Val759SerfsTer?
XM_011537068.1:c.2265del	XP_011535370.1:p.Val756SerfsTer?
XM_011537069.1:c.2235del	XP_011535371.1:p.Val746SerfsTer?
XM_011537070.1:c.2178del	XP_011535372.1:p.Val727SerfsTer?
XM_011537071.1:c.2145del	XP_011535373.1:p.Val716SerfsTer?
XM_011537072.1:c.2124del	XP_011535374.1:p.Val709SerfsTer?
XM_011537073.1:c.1917del	XP_011535375.1:p.Val640SerfsTer?
XM_011537074.1:c.1917del	XP_011535376.1:p.Val640SerfsTer?
XM_005267991.3:c.2331del	XP_005268048.2:p.Val778SerfsTer?
XM_005267992.3:c.2325del	XP_005268049.2:p.Val776SerfsTer?
XM_011537067.2:c.2274del	XP_011535369.1:p.Val759SerfsTer?
XM_011537069.2:c.2322del	XP_011535371.2:p.Val775SerfsTer?
XM_011537070.2:c.2178del	XP_011535372.1:p.Val727SerfsTer?
XM_011537071.2:c.2232del	XP_011535373.2:p.Val745SerfsTer?
XM_011537072.2:c.2124del	XP_011535374.1:p.Val709SerfsTer?
XM_017021582.1:c.2382del	XP_016877071.1:p.Val795SerfsTer?
XM_017021583.1:c.2373del	XP_016877072.1:p.Val792SerfsTer?
XM_017021584.1:c.2292del	XP_016877073.1:p.Val765SerfsTer?
XM_017021585.1:c.2241del	XP_016877074.1:p.Val748SerfsTer?
XM_017021586.1:c.1917del	XP_016877075.1:p.Val640SerfsTer?
XM_017021587.1:c.1917del	XP_016877076.1:p.Val640SerfsTer?
XM_017021588.1:c.1917del	XP_016877077.1:p.Val640SerfsTer?
NM_001164749.2:c.2223del MANE Select	NP_001158221.1:p.Val742SerfsTer?
NM_001165893.2:c.2133del	NP_001159365.1:p.Val712SerfsTer?
NM_022123.3:c.2127del	NP_071406.1:p.Val710SerfsTer?
NM_173159.3:c.2184del	NP_775182.1:p.Val729SerfsTer?
NM_001394988.1:c.2178del	NP_001381917.1:p.Val727SerfsTer?
NM_001394989.1:c.2124del	NP_001381918.1:p.Val709SerfsTer?