Canonical Allele Identifier: CA2059448665

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102854923_102854927delinsTTTGA , CM000674.2:g.102854923_102854927delinsTTTGA	GRCh38
NC_000012.11:g.103248701_103248705delinsTTTGA , CM000674.1:g.103248701_103248705delinsTTTGA	GRCh37
NC_000012.10:g.101772831_101772835delinsTTTGA	NCBI36
NG_008690.1:g.67676_67680delinsTCAAA
NG_008690.2:g.108484_108488delinsTCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.706+209_706+213delinsTCAAA MANE Select	ENSP00000448059.1:n.706+209_706+213delinsTCAAA
ENST00000307000.7:c.691+209_691+213delinsTCAAA	ENSP00000303500.2:n.691+209_691+213delinsTCAAA
ENST00000549111.5:n.1011_1015delinsTCAAA
ENST00000553106.5:c.706+209_706+213delinsTCAAA	ENSP00000448059.1:n.706+209_706+213delinsTCAAA
NM_000277.1:c.706+209_706+213delinsTCAAA	NP_000268.1:n.706+209_706+213delinsTCAAA
XM_011538422.1:c.706+209_706+213delinsTCAAA	XP_011536724.1:n.706+209_706+213delinsTCAAA
NM_000277.2:c.706+209_706+213delinsTCAAA	NP_000268.1:n.706+209_706+213delinsTCAAA
NM_001354304.1:c.706+209_706+213delinsTCAAA	NP_001341233.1:n.706+209_706+213delinsTCAAA
XM_017019370.2:c.707-126_707-122delinsTCAAA	XP_016874859.1:n.707-126_707-122delinsTCAAA
NM_000277.3:c.706+209_706+213delinsTCAAA MANE Select	NP_000268.1:n.706+209_706+213delinsTCAAA
NM_001354304.2:c.706+209_706+213delinsTCAAA	NP_001341233.1:n.706+209_706+213delinsTCAAA