Canonical Allele Identifier: CA613803867

Gene: NPAS3

Linked Data

• dbSNP Id: rs1372628821
• gnomAD v2: 14-34269773-TC-T
• gnomAD v4: 14-33800567-TC-T
• MyVariant Identifiers: chr14:g.34269774del (hg19) ; chr14:g.33800568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800571del , CM000676.2:g.33800571del	GRCh38
NC_000014.8:g.34269777del , CM000676.1:g.34269777del	GRCh37
NC_000014.7:g.33339528del	NCBI36
NG_013036.1:g.866319del
NG_013036.2:g.866319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2264del MANE Select	ENSP00000348460.4:p.Pro755ArgfsTer?
ENST00000551634.6:c.2273del	ENSP00000448373.2:p.Pro758ArgfsTer?
ENST00000680362.1:c.2164del
ENST00000681323.1:c.793+2990del
ENST00000346562.6:c.2168del	ENSP00000319610.5:p.Pro723ArgfsTer?
ENST00000356141.8:c.2264del	ENSP00000348460.4:p.Pro755ArgfsTer?
ENST00000357798.9:c.2225del	ENSP00000350446.5:p.Pro742ArgfsTer?
ENST00000548645.5:c.2174del	ENSP00000448916.1:p.Pro725ArgfsTer?
ENST00000551492.5:c.2279del	ENSP00000450392.1:p.Pro760ArgfsTer?
ENST00000551634.5:c.2186del	ENSP00000448373.1:p.Pro729ArgfsTer?
NM_001164749.1:c.2264del	NP_001158221.1:p.Pro755ArgfsTer?
NM_001165893.1:c.2174del	NP_001159365.1:p.Pro725ArgfsTer?
NM_022123.2:c.2168del	NP_071406.1:p.Pro723ArgfsTer?
NM_173159.2:c.2225del	NP_775182.1:p.Pro742ArgfsTer?
XM_005267991.2:c.2285del	XP_005268048.1:p.Pro762ArgfsTer?
XM_005267992.2:c.2279del	XP_005268049.1:p.Pro760ArgfsTer?
XM_005267993.2:c.2225del	XP_005268050.1:p.Pro742ArgfsTer?
XM_011537067.1:c.2315del	XP_011535369.1:p.Pro772ArgfsTer?
XM_011537068.1:c.2306del	XP_011535370.1:p.Pro769ArgfsTer?
XM_011537069.1:c.2276del	XP_011535371.1:p.Pro759ArgfsTer?
XM_011537070.1:c.2219del	XP_011535372.1:p.Pro740ArgfsTer?
XM_011537071.1:c.2186del	XP_011535373.1:p.Pro729ArgfsTer?
XM_011537072.1:c.2165del	XP_011535374.1:p.Pro722ArgfsTer?
XM_011537073.1:c.1958del	XP_011535375.1:p.Pro653ArgfsTer?
XM_011537074.1:c.1958del	XP_011535376.1:p.Pro653ArgfsTer?
XM_005267991.3:c.2372del	XP_005268048.2:p.Pro791ArgfsTer?
XM_005267992.3:c.2366del	XP_005268049.2:p.Pro789ArgfsTer?
XM_011537067.2:c.2315del	XP_011535369.1:p.Pro772ArgfsTer?
XM_011537069.2:c.2363del	XP_011535371.2:p.Pro788ArgfsTer?
XM_011537070.2:c.2219del	XP_011535372.1:p.Pro740ArgfsTer?
XM_011537071.2:c.2273del	XP_011535373.2:p.Pro758ArgfsTer?
XM_011537072.2:c.2165del	XP_011535374.1:p.Pro722ArgfsTer?
XM_017021582.1:c.2423del	XP_016877071.1:p.Pro808ArgfsTer?
XM_017021583.1:c.2414del	XP_016877072.1:p.Pro805ArgfsTer?
XM_017021584.1:c.2333del	XP_016877073.1:p.Pro778ArgfsTer?
XM_017021585.1:c.2282del	XP_016877074.1:p.Pro761ArgfsTer?
XM_017021586.1:c.1958del	XP_016877075.1:p.Pro653ArgfsTer?
XM_017021587.1:c.1958del	XP_016877076.1:p.Pro653ArgfsTer?
XM_017021588.1:c.1958del	XP_016877077.1:p.Pro653ArgfsTer?
NM_001164749.2:c.2264del MANE Select	NP_001158221.1:p.Pro755ArgfsTer?
NM_001165893.2:c.2174del	NP_001159365.1:p.Pro725ArgfsTer?
NM_022123.3:c.2168del	NP_071406.1:p.Pro723ArgfsTer?
NM_173159.3:c.2225del	NP_775182.1:p.Pro742ArgfsTer?
NM_001394988.1:c.2219del	NP_001381917.1:p.Pro740ArgfsTer?
NM_001394989.1:c.2165del	NP_001381918.1:p.Pro722ArgfsTer?