Canonical Allele Identifier: CA2695217251

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866597_102866599delinsTGG , CM000674.2:g.102866597_102866599delinsTGG	GRCh38
NC_000012.11:g.103260375_103260377delinsTGG , CM000674.1:g.103260375_103260377delinsTGG	GRCh37
NC_000012.10:g.101784505_101784507delinsTGG	NCBI36
NG_008690.1:g.56004_56006delinsCCA
NG_008690.2:g.96812_96814delinsCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.506_508delinsCCA MANE Select	ENSP00000448059.1:p.Arg169_His170delinsPr...
ENST00000307000.7:c.491_493delinsCCA	ENSP00000303500.2:p.Arg164_His165delinsPr...
ENST00000549111.5:n.602_604delinsCCA
ENST00000551988.5:n.530+10863_530+10865delinsCCA
ENST00000553106.5:c.506_508delinsCCA	ENSP00000448059.1:p.Arg169_His170delinsPr...
NM_000277.1:c.506_508delinsCCA	NP_000268.1:p.Arg169_His170delinsProAsn
XM_011538422.1:c.506_508delinsCCA	XP_011536724.1:p.Arg169_His170delinsProAs...
NM_000277.2:c.506_508delinsCCA	NP_000268.1:p.Arg169_His170delinsProAsn
NM_001354304.1:c.506_508delinsCCA	NP_001341233.1:p.Arg169_His170delinsProAs...
XM_017019370.2:c.506_508delinsCCA	XP_016874859.1:p.Arg169_His170delinsProAs...
NM_000277.3:c.506_508delinsCCA MANE Select	NP_000268.1:p.Arg169_His170delinsProAsn
NM_001354304.2:c.506_508delinsCCA	NP_001341233.1:p.Arg169_His170delinsProAs...