Canonical Allele Identifier: CA2059445807
Gene: PAH HGNC NCBI

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