Canonical Allele Identifier: CA2059448565
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854829_102854834delinsCAAAAA , CM000674.2:g.102854829_102854834delinsCAAAAA GRCh38
NC_000012.11:g.103248607_103248612delinsCAAAAA , CM000674.1:g.103248607_103248612delinsCAAAAA GRCh37
NC_000012.10:g.101772737_101772742delinsCAAAAA NCBI36
NG_008690.1:g.67769_67774delinsTTTTTG
NG_008690.2:g.108577_108582delinsTTTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+302_706+307delinsTTTTTG MANE Select ENSP00000448059.1:n.706+302_706+307delinsTTTTTG
ENST00000307000.7:c.691+302_691+307delinsTTTTTG ENSP00000303500.2:n.691+302_691+307delinsTTTTTG
ENST00000549111.5:n.1104_1109delinsTTTTTG
ENST00000553106.5:c.706+302_706+307delinsTTTTTG ENSP00000448059.1:n.706+302_706+307delinsTTTTTG
NM_000277.1:c.706+302_706+307delinsTTTTTG NP_000268.1:n.706+302_706+307delinsTTTTTG
XM_011538422.1:c.706+302_706+307delinsTTTTTG XP_011536724.1:n.706+302_706+307delinsTTTTTG
NM_000277.2:c.706+302_706+307delinsTTTTTG NP_000268.1:n.706+302_706+307delinsTTTTTG
NM_001354304.1:c.706+302_706+307delinsTTTTTG NP_001341233.1:n.706+302_706+307delinsTTTTTG
XM_017019370.2:c.707-33_707-28delinsTTTTTG XP_016874859.1:n.707-33_707-28delinsTTTTTG
NM_000277.3:c.706+302_706+307delinsTTTTTG MANE Select NP_000268.1:n.706+302_706+307delinsTTTTTG
NM_001354304.2:c.706+302_706+307delinsTTTTTG NP_001341233.1:n.706+302_706+307delinsTTTTTG
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