Canonical Allele Identifier: CA2059444785

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851788_102851791delinsGGGA , CM000674.2:g.102851788_102851791delinsGGGA	GRCh38
NC_000012.11:g.103245566_103245569delinsGGGA , CM000674.1:g.103245566_103245569delinsGGGA	GRCh37
NC_000012.10:g.101769696_101769699delinsGGGA	NCBI36
NG_008690.1:g.70812_70815delinsTCCC
NG_008690.2:g.111620_111623delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-35_843-32delinsTCCC MANE Select	ENSP00000448059.1:n.843-35_843-32delinsTCCC
ENST00000307000.7:c.828-35_828-32delinsTCCC	ENSP00000303500.2:n.828-35_828-32delinsTCCC
ENST00000549247.6:n.602-35_602-32delinsTCCC
ENST00000551114.2:n.470_473delinsTCCC
ENST00000553106.5:c.843-35_843-32delinsTCCC	ENSP00000448059.1:n.843-35_843-32delinsTCCC
ENST00000635477.1:c.4-35_4-32delinsTCCC
NM_000277.1:c.843-35_843-32delinsTCCC	NP_000268.1:n.843-35_843-32delinsTCCC
XM_011538422.1:c.843-35_843-32delinsTCCC	XP_011536724.1:n.843-35_843-32delinsTCCC
NM_000277.2:c.843-35_843-32delinsTCCC	NP_000268.1:n.843-35_843-32delinsTCCC
NM_001354304.1:c.843-35_843-32delinsTCCC	NP_001341233.1:n.843-35_843-32delinsTCCC
NM_000277.3:c.843-35_843-32delinsTCCC MANE Select	NP_000268.1:n.843-35_843-32delinsTCCC
NM_001354304.2:c.843-35_843-32delinsTCCC	NP_001341233.1:n.843-35_843-32delinsTCCC