Canonical Allele Identifier: CA2059443918

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851371_102851374delinsGGAA , CM000674.2:g.102851371_102851374delinsGGAA	GRCh38
NC_000012.11:g.103245149_103245152delinsGGAA , CM000674.1:g.103245149_103245152delinsGGAA	GRCh37
NC_000012.10:g.101769279_101769282delinsGGAA	NCBI36
NG_008690.1:g.71229_71232delinsTTCC
NG_008690.2:g.112037_112040delinsTTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+313_912+316delinsTTCC MANE Select	ENSP00000448059.1:n.912+313_912+316delins...
ENST00000307000.7:c.897+313_897+316delinsTTCC	ENSP00000303500.2:n.897+313_897+316delins...
ENST00000549247.6:n.671+313_671+316delinsTTCC
ENST00000551114.2:n.574+313_574+316delinsTTCC
ENST00000553106.5:c.912+313_912+316delinsTTCC	ENSP00000448059.1:n.912+313_912+316delins...
ENST00000635477.1:c.73+313_73+316delinsTTCC
NM_000277.1:c.912+313_912+316delinsTTCC	NP_000268.1:n.912+313_912+316delinsTTCC
XM_011538422.1:c.912+313_912+316delinsTTCC	XP_011536724.1:n.912+313_912+316delinsTTC...
NM_000277.2:c.912+313_912+316delinsTTCC	NP_000268.1:n.912+313_912+316delinsTTCC
NM_001354304.1:c.912+313_912+316delinsTTCC	NP_001341233.1:n.912+313_912+316delinsTTC...
NM_000277.3:c.912+313_912+316delinsTTCC MANE Select	NP_000268.1:n.912+313_912+316delinsTTCC
NM_001354304.2:c.912+313_912+316delinsTTCC	NP_001341233.1:n.912+313_912+316delinsTTC...