Canonical Allele Identifier: CA2059444484

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851710_102851726delinsGATCTGAAAACAAGGGC , CM000674.2:g.102851710_102851726delinsGATCTGAAAACAAGGGC	GRCh38
NC_000012.11:g.103245488_103245504delinsGATCTGAAAACAAGGGC , CM000674.1:g.103245488_103245504delinsGATCTGAAAACAAGGGC	GRCh37
NC_000012.10:g.101769618_101769634delinsGATCTGAAAACAAGGGC	NCBI36
NG_008690.1:g.70877_70893delinsGCCCTTGTTTTCAGATC
NG_008690.2:g.111685_111701delinsGCCCTTGTTTTCAGATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.873_889delinsGCCCTTGTTTTCAGATC MANE Select	ENSP00000448059.1:p.Val291=
ENST00000307000.7:c.858_874delinsGCCCTTGTTTTCAGATC	ENSP00000303500.2:p.Val286=
ENST00000549247.6:n.632_648delinsGCCCTTGTTTTCAGATC
ENST00000551114.2:n.535_551delinsGCCCTTGTTTTCAGATC
ENST00000553106.5:c.873_889delinsGCCCTTGTTTTCAGATC	ENSP00000448059.1:p.Val291=
ENST00000635477.1:c.34_50delinsGCCCTTGTTTTCAGATC
NM_000277.1:c.873_889delinsGCCCTTGTTTTCAGATC	NP_000268.1:p.Val291=
XM_011538422.1:c.873_889delinsGCCCTTGTTTTCAGATC	XP_011536724.1:p.Val291=
NM_000277.2:c.873_889delinsGCCCTTGTTTTCAGATC	NP_000268.1:p.Val291=
NM_001354304.1:c.873_889delinsGCCCTTGTTTTCAGATC	NP_001341233.1:p.Val291=
NM_000277.3:c.873_889delinsGCCCTTGTTTTCAGATC MANE Select	NP_000268.1:p.Val291=
NM_001354304.2:c.873_889delinsGCCCTTGTTTTCAGATC	NP_001341233.1:p.Val291=