Canonical Allele Identifier: CA2059446231

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852842_102852847delinsCCATGT , CM000674.2:g.102852842_102852847delinsCCATGT	GRCh38
NC_000012.11:g.103246620_103246625delinsCCATGT , CM000674.1:g.103246620_103246625delinsCCATGT	GRCh37
NC_000012.10:g.101770750_101770755delinsCCATGT	NCBI36
NG_008690.1:g.69756_69761delinsACATGG
NG_008690.2:g.110564_110569delinsACATGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.810_815delinsACATGG MANE Select	NP_000268.1:p.Arg270=
ENST00000553106.6:c.810_815delinsACATGG MANE Select	ENSP00000448059.1:p.Arg270=
NM_000277.1:c.810_815delinsACATGG	NP_000268.1:p.Arg270=
NM_000277.2:c.810_815delinsACATGG	NP_000268.1:p.Arg270=
NM_001354304.1:c.810_815delinsACATGG	NP_001341233.1:p.Arg270=
NM_001354304.2:c.810_815delinsACATGG	NP_001341233.1:p.Arg270=
ENST00000307000.7:c.795_800delinsACATGG	ENSP00000303500.2:p.Arg265=
ENST00000549247.6:n.569_574delinsACATGG
ENST00000553106.5:c.810_815delinsACATGG	ENSP00000448059.1:p.Arg270=
XM_011538422.1:c.810_815delinsACATGG	XP_011536724.1:p.Arg270=