Canonical Allele Identifier: CA2782557010

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574858_143574859insACCCAAACACACCCAACA , CM000670.2:g.143574858_143574859insACCCAAACACACCCAACA	GRCh38
NC_000008.10:g.144657028_144657029insACCCAAACACACCCAACA , CM000670.1:g.144657028_144657029insACCCAAACACACCCAACA	GRCh37
NC_000008.9:g.144728171_144728172insACCCAAACACACCCAACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1599_1600insTGGGTGTGTTTGGGTTGT MANE Select	ENSP00000401508.2:p.Cys533_Ala534insTrpValCysLeuGlyCys
ENST00000340490.7:c.1684_1685insTGGGTGTGTTTGGGTTGT	ENSP00000341136.3:p.Val561_Cys562insLeuGlyValPheGlyLeu
ENST00000426292.7:c.1560_1561insTGGGTGTGTTTGGGTTGT	ENSP00000390949.3:p.Cys520_Ala521insTrpValCysLeuGlyCys
ENST00000435154.7:c.*308_*309insTGGGTGTGTTTGGGTTGT	ENSP00000405670.3:n.*308_*309insTGGGTGTGTTTGGGTTGT
ENST00000449291.6:c.1599_1600insTGGGTGTGTTTGGGTTGT	ENSP00000401508.2:p.Cys533_Ala534insTrpValCysLeuGlyCys
ENST00000460623.5:c.623_624insTGGGTGTGTTTGGGTTGT
ENST00000464332.5:n.1143_1144insTGGGTGTGTTTGGGTTGT
ENST00000498076.5:n.378_379insTGGGTGTGTTTGGGTTGT
ENST00000529179.1:n.383_384insTGGGTGTGTTTGGGTTGT
NM_001286829.1:c.1560_1561insTGGGTGTGTTTGGGTTGT	NP_001273758.1:p.Cys520_Ala521insTrpValCysLeuGlyCys
NM_145201.5:c.1599_1600insTGGGTGTGTTTGGGTTGT	NP_660202.3:p.Cys533_Ala534insTrpValCysLeuGlyCys
XM_011517377.1:c.1336_1337insTGGGTGTGTTTGGGTTGT	XP_011515679.1:p.Val445_Cys446insLeuGlyValPheGlyLeu
NM_001363145.1:c.1518_1519insTGGGTGTGTTTGGGTTGT	NP_001350074.1:p.Cys506_Ala507insTrpValCysLeuGlyCys
NM_001363146.1:c.915_916insTGGGTGTGTTTGGGTTGT	NP_001350075.1:p.Cys305_Ala306insTrpValCysLeuGlyCys
XM_017013975.2:c.1903_1904insTGGGTGTGTTTGGGTTGT	XP_016869464.1:p.Val634_Cys635insLeuGlyValPheGlyLeu
XM_017013976.2:c.1818_1819insTGGGTGTGTTTGGGTTGT	XP_016869465.1:p.Cys606_Ala607insTrpValCysLeuGlyCys
XM_017013977.2:c.1603_1604insTGGGTGTGTTTGGGTTGT	XP_016869466.1:p.Val534_Cys535insLeuGlyValPheGlyLeu
XM_017013978.2:c.1555_1556insTGGGTGTGTTTGGGTTGT	XP_016869467.1:p.Val518_Cys519insLeuGlyValPheGlyLeu
XM_017013979.2:c.1000_1001insTGGGTGTGTTTGGGTTGT	XP_016869468.1:p.Val333_Cys334insLeuGlyValPheGlyLeu
XM_024447332.1:c.973_974insTGGGTGTGTTTGGGTTGT	XP_024303100.1:p.Val324_Cys325insLeuGlyValPheGlyLeu
XM_024447333.1:c.919_920insTGGGTGTGTTTGGGTTGT	XP_024303101.1:p.Val306_Cys307insLeuGlyValPheGlyLeu
NM_145201.6:c.1599_1600insTGGGTGTGTTTGGGTTGT MANE Select	NP_660202.3:p.Cys533_Ala534insTrpValCysLeuGlyCys
NM_001286829.2:c.1560_1561insTGGGTGTGTTTGGGTTGT	NP_001273758.1:p.Cys520_Ala521insTrpValCysLeuGlyCys