Canonical Allele Identifier: CA2059445807

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852721_102852736delinsGACCAGCCAGCAATGA , CM000674.2:g.102852721_102852736delinsGACCAGCCAGCAATGA	GRCh38
NC_000012.11:g.103246499_103246514delinsGACCAGCCAGCAATGA , CM000674.1:g.103246499_103246514delinsGACCAGCCAGCAATGA	GRCh37
NC_000012.10:g.101770629_101770644delinsGACCAGCCAGCAATGA	NCBI36
NG_008690.1:g.69867_69882delinsTCATTGCTGGCTGGTC
NG_008690.2:g.110675_110690delinsTCATTGCTGGCTGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+79_842+94delinsTCATTGCTGGCTGGTC MANE Select	ENSP00000448059.1:n.842+79_842+94delinsTCATTGCTGGCTGGTC
ENST00000307000.7:c.827+79_827+94delinsTCATTGCTGGCTGGTC	ENSP00000303500.2:n.827+79_827+94delinsTCATTGCTGGCTGGTC
ENST00000549247.6:n.601+79_601+94delinsTCATTGCTGGCTGGTC
ENST00000553106.5:c.842+79_842+94delinsTCATTGCTGGCTGGTC	ENSP00000448059.1:n.842+79_842+94delinsTCATTGCTGGCTGGTC
ENST00000635477.1:c.3+79_3+94delinsTCATTGCTGGCTGGTC
NM_000277.1:c.842+79_842+94delinsTCATTGCTGGCTGGTC	NP_000268.1:n.842+79_842+94delinsTCATTGCTGGCTGGTC
XM_011538422.1:c.842+79_842+94delinsTCATTGCTGGCTGGTC	XP_011536724.1:n.842+79_842+94delinsTCATTGCTGGCTGGTC
NM_000277.2:c.842+79_842+94delinsTCATTGCTGGCTGGTC	NP_000268.1:n.842+79_842+94delinsTCATTGCTGGCTGGTC
NM_001354304.1:c.842+79_842+94delinsTCATTGCTGGCTGGTC	NP_001341233.1:n.842+79_842+94delinsTCATTGCTGGCTGGTC
NM_000277.3:c.842+79_842+94delinsTCATTGCTGGCTGGTC MANE Select	NP_000268.1:n.842+79_842+94delinsTCATTGCTGGCTGGTC
NM_001354304.2:c.842+79_842+94delinsTCATTGCTGGCTGGTC	NP_001341233.1:n.842+79_842+94delinsTCATTGCTGGCTGGTC