Canonical Allele Identifier: CA2059446333

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852855_102852856delinsAC , CM000674.2:g.102852855_102852856delinsAC	GRCh38
NC_000012.11:g.103246633_103246634delinsAC , CM000674.1:g.103246633_103246634delinsAC	GRCh37
NC_000012.10:g.101770763_101770764delinsAC	NCBI36
NG_008690.1:g.69747_69748delinsGT
NG_008690.2:g.110555_110556delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.801_802delinsGT MANE Select	ENSP00000448059.1:p.Gln267=
ENST00000307000.7:c.786_787delinsGT	ENSP00000303500.2:p.Gln262=
ENST00000549247.6:n.560_561delinsGT
ENST00000553106.5:c.801_802delinsGT	ENSP00000448059.1:p.Gln267=
NM_000277.1:c.801_802delinsGT	NP_000268.1:p.Gln267=
XM_011538422.1:c.801_802delinsGT	XP_011536724.1:p.Gln267=
NM_000277.2:c.801_802delinsGT	NP_000268.1:p.Gln267=
NM_001354304.1:c.801_802delinsGT	NP_001341233.1:p.Gln267=
NM_000277.3:c.801_802delinsGT MANE Select	NP_000268.1:p.Gln267=
NM_001354304.2:c.801_802delinsGT	NP_001341233.1:p.Gln267=