Canonical Allele Identifier: CA2620525644
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854834-A-AAAACAAAAC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854837_102854838insCAAAACAAA , CM000674.2:g.102854837_102854838insCAAAACAAA GRCh38
NC_000012.11:g.103248615_103248616insCAAAACAAA , CM000674.1:g.103248615_103248616insCAAAACAAA GRCh37
NC_000012.10:g.101772745_101772746insCAAAACAAA NCBI36
NG_008690.1:g.67768_67769insGTTTTGTTT
NG_008690.2:g.108576_108577insGTTTTGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+301_706+302insGTTTTGTTT MANE Select ENSP00000448059.1:n.706+301_706+302insGTTTTGTTT
ENST00000307000.7:c.691+301_691+302insGTTTTGTTT ENSP00000303500.2:n.691+301_691+302insGTTTTGTTT
ENST00000549111.5:n.1103_1104insGTTTTGTTT
ENST00000553106.5:c.706+301_706+302insGTTTTGTTT ENSP00000448059.1:n.706+301_706+302insGTTTTGTTT
NM_000277.1:c.706+301_706+302insGTTTTGTTT NP_000268.1:n.706+301_706+302insGTTTTGTTT
XM_011538422.1:c.706+301_706+302insGTTTTGTTT XP_011536724.1:n.706+301_706+302insGTTTTGTTT
NM_000277.2:c.706+301_706+302insGTTTTGTTT NP_000268.1:n.706+301_706+302insGTTTTGTTT
NM_001354304.1:c.706+301_706+302insGTTTTGTTT NP_001341233.1:n.706+301_706+302insGTTTTGTTT
XM_017019370.2:c.707-34_707-33insGTTTTGTTT XP_016874859.1:n.707-34_707-33insGTTTTGTTT
NM_000277.3:c.706+301_706+302insGTTTTGTTT MANE Select NP_000268.1:n.706+301_706+302insGTTTTGTTT
NM_001354304.2:c.706+301_706+302insGTTTTGTTT NP_001341233.1:n.706+301_706+302insGTTTTGTTT
Search 100 bp 5'
Search 100 bp 3'