Canonical Allele Identifier: CA1825861465

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575457_143575465delinsCCCAGGCAA , CM000670.2:g.143575457_143575465delinsCCCAGGCAA	GRCh38
NC_000008.10:g.144657627_144657635delinsCCCAGGCAA , CM000670.1:g.144657627_144657635delinsCCCAGGCAA	GRCh37
NC_000008.9:g.144728770_144728778delinsCCCAGGCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1249_1257delinsTTGCCTGGG MANE Select	ENSP00000401508.2:p.Leu417=
ENST00000340490.7:c.1249_1257delinsTTGCCTGGG	ENSP00000341136.3:p.Leu417=
ENST00000426292.7:c.1249_1257delinsTTGCCTGGG	ENSP00000390949.3:p.Leu417=
ENST00000435154.7:c.1249_1257delinsTTGCCTGGG	ENSP00000405670.3:p.Leu417=
ENST00000449291.6:c.1249_1257delinsTTGCCTGGG	ENSP00000401508.2:p.Leu417=
ENST00000460623.5:c.227_235delinsTTGCCTGGG
ENST00000464332.5:n.793_801delinsTTGCCTGGG
ENST00000525583.5:c.1033_1041delinsTTGCCTGGG
NM_001286829.1:c.1249_1257delinsTTGCCTGGG	NP_001273758.1:p.Leu417=
NM_145201.5:c.1249_1257delinsTTGCCTGGG	NP_660202.3:p.Leu417=
XM_011517377.1:c.1249_1257delinsTTGCCTGGG	XP_011515679.1:p.Leu417=
NM_001363145.1:c.1168_1176delinsTTGCCTGGG	NP_001350074.1:p.Leu390=
NM_001363146.1:c.565_573delinsTTGCCTGGG	NP_001350075.1:p.Leu189=
XM_017013975.2:c.1468_1476delinsTTGCCTGGG	XP_016869464.1:p.Leu490=
XM_017013976.2:c.1468_1476delinsTTGCCTGGG	XP_016869465.1:p.Leu490=
XM_017013977.2:c.1168_1176delinsTTGCCTGGG	XP_016869466.1:p.Leu390=
XM_017013978.2:c.1468_1476delinsTTGCCTGGG	XP_016869467.1:p.Leu490=
XM_017013979.2:c.565_573delinsTTGCCTGGG	XP_016869468.1:p.Leu189=
XM_024447332.1:c.886_894delinsTTGCCTGGG	XP_024303100.1:p.Leu296=
XM_024447333.1:c.484_492delinsTTGCCTGGG	XP_024303101.1:p.Leu162=
NM_145201.6:c.1249_1257delinsTTGCCTGGG MANE Select	NP_660202.3:p.Leu417=
NM_001286829.2:c.1249_1257delinsTTGCCTGGG	NP_001273758.1:p.Leu417=