Canonical Allele Identifier: CA613803861

Gene: NPAS3

Linked Data

• dbSNP Id: rs760720626
• gnomAD v2: 14-34269598-G-GGGC
• gnomAD v3: 14-33800392-G-GGGC
• gnomAD v4: 14-33800392-G-GGGC
• MyVariant Identifiers: chr14:g.34269601_34269602insGGC (hg19) ; chr14:g.34269598_34269599insGGC (hg19) ; chr14:g.33800392_33800393insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800401_33800403dup , CM000676.2:g.33800401_33800403dup	GRCh38
NC_000014.8:g.34269607_34269609dup , CM000676.1:g.34269607_34269609dup	GRCh37
NC_000014.7:g.33339358_33339360dup	NCBI36
NG_013036.1:g.866149_866151dup
NG_013036.2:g.866149_866151dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2094_2096dup MANE Select	ENSP00000348460.4:p.Gly699_Gly700insGly
ENST00000551634.6:c.2103_2105dup	ENSP00000448373.2:p.Gly702_Gly703insGly
ENST00000680362.1:c.1994_1996dup
ENST00000681323.1:c.793+2820_793+2822dup
ENST00000346562.6:c.1998_2000dup	ENSP00000319610.5:p.Gly667_Gly668insGly
ENST00000356141.8:c.2094_2096dup	ENSP00000348460.4:p.Gly699_Gly700insGly
ENST00000357798.9:c.2055_2057dup	ENSP00000350446.5:p.Gly686_Gly687insGly
ENST00000548645.5:c.2004_2006dup	ENSP00000448916.1:p.Gly669_Gly670insGly
ENST00000551492.5:c.2109_2111dup	ENSP00000450392.1:p.Gly704_Gly705insGly
ENST00000551634.5:c.2016_2018dup	ENSP00000448373.1:p.Gly673_Gly674insGly
NM_001164749.1:c.2094_2096dup	NP_001158221.1:p.Gly699_Gly700insGly
NM_001165893.1:c.2004_2006dup	NP_001159365.1:p.Gly669_Gly670insGly
NM_022123.2:c.1998_2000dup	NP_071406.1:p.Gly667_Gly668insGly
NM_173159.2:c.2055_2057dup	NP_775182.1:p.Gly686_Gly687insGly
XM_005267991.2:c.2115_2117dup	XP_005268048.1:p.Gly706_Gly707insGly
XM_005267992.2:c.2109_2111dup	XP_005268049.1:p.Gly704_Gly705insGly
XM_005267993.2:c.2055_2057dup	XP_005268050.1:p.Gly686_Gly687insGly
XM_011537067.1:c.2145_2147dup	XP_011535369.1:p.Gly716_Gly717insGly
XM_011537068.1:c.2136_2138dup	XP_011535370.1:p.Gly713_Gly714insGly
XM_011537069.1:c.2106_2108dup	XP_011535371.1:p.Gly703_Gly704insGly
XM_011537070.1:c.2049_2051dup	XP_011535372.1:p.Gly684_Gly685insGly
XM_011537071.1:c.2016_2018dup	XP_011535373.1:p.Gly673_Gly674insGly
XM_011537072.1:c.1995_1997dup	XP_011535374.1:p.Gly666_Gly667insGly
XM_011537073.1:c.1788_1790dup	XP_011535375.1:p.Gly597_Gly598insGly
XM_011537074.1:c.1788_1790dup	XP_011535376.1:p.Gly597_Gly598insGly
XM_005267991.3:c.2202_2204dup	XP_005268048.2:p.Gly735_Gly736insGly
XM_005267992.3:c.2196_2198dup	XP_005268049.2:p.Gly733_Gly734insGly
XM_011537067.2:c.2145_2147dup	XP_011535369.1:p.Gly716_Gly717insGly
XM_011537069.2:c.2193_2195dup	XP_011535371.2:p.Gly732_Gly733insGly
XM_011537070.2:c.2049_2051dup	XP_011535372.1:p.Gly684_Gly685insGly
XM_011537071.2:c.2103_2105dup	XP_011535373.2:p.Gly702_Gly703insGly
XM_011537072.2:c.1995_1997dup	XP_011535374.1:p.Gly666_Gly667insGly
XM_017021582.1:c.2253_2255dup	XP_016877071.1:p.Gly752_Gly753insGly
XM_017021583.1:c.2244_2246dup	XP_016877072.1:p.Gly749_Gly750insGly
XM_017021584.1:c.2163_2165dup	XP_016877073.1:p.Gly722_Gly723insGly
XM_017021585.1:c.2112_2114dup	XP_016877074.1:p.Gly705_Gly706insGly
XM_017021586.1:c.1788_1790dup	XP_016877075.1:p.Gly597_Gly598insGly
XM_017021587.1:c.1788_1790dup	XP_016877076.1:p.Gly597_Gly598insGly
XM_017021588.1:c.1788_1790dup	XP_016877077.1:p.Gly597_Gly598insGly
NM_001164749.2:c.2094_2096dup MANE Select	NP_001158221.1:p.Gly699_Gly700insGly
NM_001165893.2:c.2004_2006dup	NP_001159365.1:p.Gly669_Gly670insGly
NM_022123.3:c.1998_2000dup	NP_071406.1:p.Gly667_Gly668insGly
NM_173159.3:c.2055_2057dup	NP_775182.1:p.Gly686_Gly687insGly
NM_001394988.1:c.2049_2051dup	NP_001381917.1:p.Gly684_Gly685insGly
NM_001394989.1:c.1995_1997dup	NP_001381918.1:p.Gly666_Gly667insGly