Canonical Allele Identifier: CA2059449357

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855209_102855210delinsTG , CM000674.2:g.102855209_102855210delinsTG	GRCh38
NC_000012.11:g.103248987_103248988delinsTG , CM000674.1:g.103248987_103248988delinsTG	GRCh37
NC_000012.10:g.101773117_101773118delinsTG	NCBI36
NG_008690.1:g.67393_67394delinsCA
NG_008690.2:g.108201_108202delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.632_633delinsCA MANE Select	ENSP00000448059.1:p.Pro211=
ENST00000307000.7:c.617_618delinsCA	ENSP00000303500.2:p.Pro206=
ENST00000549111.5:n.728_729delinsCA
ENST00000553106.5:c.632_633delinsCA	ENSP00000448059.1:p.Pro211=
NM_000277.1:c.632_633delinsCA	NP_000268.1:p.Pro211=
XM_011538422.1:c.632_633delinsCA	XP_011536724.1:p.Pro211=
NM_000277.2:c.632_633delinsCA	NP_000268.1:p.Pro211=
NM_001354304.1:c.632_633delinsCA	NP_001341233.1:p.Pro211=
XM_017019370.2:c.632_633delinsCA	XP_016874859.1:p.Pro211=
NM_000277.3:c.632_633delinsCA MANE Select	NP_000268.1:p.Pro211=
NM_001354304.2:c.632_633delinsCA	NP_001341233.1:p.Pro211=