Canonical Allele Identifier: CA607154929
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1565847906
gnomAD v2: 12-103248612-A-AAAAC
gnomAD v3: 12-102854834-A-AAAAC
gnomAD v4: 12-102854834-A-AAAAC
MyVariant Identifiers: chr12:g.103248612_103248613insAAAC (hg19) chr12:g.102854834_102854835insAAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854837_102854838insCAAA , CM000674.2:g.102854837_102854838insCAAA GRCh38
NC_000012.11:g.103248615_103248616insCAAA , CM000674.1:g.103248615_103248616insCAAA GRCh37
NC_000012.10:g.101772745_101772746insCAAA NCBI36
NG_008690.1:g.67768_67769insGTTT
NG_008690.2:g.108576_108577insGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+301_706+302insGTTT MANE Select ENSP00000448059.1:n.706+301_706+302insGTTT
ENST00000307000.7:c.691+301_691+302insGTTT ENSP00000303500.2:n.691+301_691+302insGTTT
ENST00000549111.5:n.1103_1104insGTTT
ENST00000553106.5:c.706+301_706+302insGTTT ENSP00000448059.1:n.706+301_706+302insGTTT
NM_000277.1:c.706+301_706+302insGTTT NP_000268.1:n.706+301_706+302insGTTT
XM_011538422.1:c.706+301_706+302insGTTT XP_011536724.1:n.706+301_706+302insGTTT
NM_000277.2:c.706+301_706+302insGTTT NP_000268.1:n.706+301_706+302insGTTT
NM_001354304.1:c.706+301_706+302insGTTT NP_001341233.1:n.706+301_706+302insGTTT
XM_017019370.2:c.707-34_707-33insGTTT XP_016874859.1:n.707-34_707-33insGTTT
NM_000277.3:c.706+301_706+302insGTTT MANE Select NP_000268.1:n.706+301_706+302insGTTT
NM_001354304.2:c.706+301_706+302insGTTT NP_001341233.1:n.706+301_706+302insGTTT
Search 100 bp 5'
Search 100 bp 3'