Canonical Allele Identifier: CA2059448522
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854810_102854825delinsCAAACAAAACAAAACA , CM000674.2:g.102854810_102854825delinsCAAACAAAACAAAACA GRCh38
NC_000012.11:g.103248588_103248603delinsCAAACAAAACAAAACA , CM000674.1:g.103248588_103248603delinsCAAACAAAACAAAACA GRCh37
NC_000012.10:g.101772718_101772733delinsCAAACAAAACAAAACA NCBI36
NG_008690.1:g.67778_67793delinsTGTTTTGTTTTGTTTG
NG_008690.2:g.108586_108601delinsTGTTTTGTTTTGTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+311_706+326delinsTGTTTTGTTTTGTTTG MANE Select ENSP00000448059.1:n.706+311_706+326delinsTGTTTTGTTTTGTTTG
ENST00000307000.7:c.691+311_691+326delinsTGTTTTGTTTTGTTTG ENSP00000303500.2:n.691+311_691+326delinsTGTTTTGTTTTGTTTG
ENST00000549111.5:n.1113_1128delinsTGTTTTGTTTTGTTTG
ENST00000553106.5:c.706+311_706+326delinsTGTTTTGTTTTGTTTG ENSP00000448059.1:n.706+311_706+326delinsTGTTTTGTTTTGTTTG
NM_000277.1:c.706+311_706+326delinsTGTTTTGTTTTGTTTG NP_000268.1:n.706+311_706+326delinsTGTTTTGTTTTGTTTG
XM_011538422.1:c.706+311_706+326delinsTGTTTTGTTTTGTTTG XP_011536724.1:n.706+311_706+326delinsTGTTTTGTTTTGTTTG
NM_000277.2:c.706+311_706+326delinsTGTTTTGTTTTGTTTG NP_000268.1:n.706+311_706+326delinsTGTTTTGTTTTGTTTG
NM_001354304.1:c.706+311_706+326delinsTGTTTTGTTTTGTTTG NP_001341233.1:n.706+311_706+326delinsTGTTTTGTTTTGTTTG
XM_017019370.2:c.707-24_707-9delinsTGTTTTGTTTTGTTTG XP_016874859.1:n.707-24_707-9delinsTGTTTTGTTTTGTTTG
NM_000277.3:c.706+311_706+326delinsTGTTTTGTTTTGTTTG MANE Select NP_000268.1:n.706+311_706+326delinsTGTTTTGTTTTGTTTG
NM_001354304.2:c.706+311_706+326delinsTGTTTTGTTTTGTTTG NP_001341233.1:n.706+311_706+326delinsTGTTTTGTTTTGTTTG
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