Canonical Allele Identifier: CA951241099
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102865729-A-AAGTCTGGTGAGGCCACTTGCCTCTTCAAAAGCCC
gnomAD v4: 12-102865729-A-AAGTCTGGTGAGGCCACTTGCCTCTTCAAAAGCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865729_102865730insAGTCTGGTGAGGCCACTTGCCTCTTCAAAAGCCC , CM000674.2:g.102865729_102865730insAGTCTGGTGAGGCCACTTGCCTCTTCAAAAGCCC GRCh38
NC_000012.11:g.103259507_103259508insAGTCTGGTGAGGCCACTTGCCTCTTCAAAAGCCC , CM000674.1:g.103259507_103259508insAGTCTGGTGAGGCCACTTGCCTCTTCAAAAGCCC GRCh37
NC_000012.10:g.101783637_101783638insAGTCTGGTGAGGCCACTTGCCTCTTCAAAAGCCC NCBI36
NG_008690.1:g.56873_56874insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT
NG_008690.2:g.97681_97682insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT MANE Select ENSP00000448059.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGC...
ENST00000307000.7:c.494+866_494+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT ENSP00000303500.2:n.494+866_494+867insGGGCTTTTGAAGAGGCAAGTGGC...
ENST00000549111.5:n.605+866_605+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT
ENST00000551988.5:n.531-10398_531-10397insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT
ENST00000553106.5:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT ENSP00000448059.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGC...
NM_000277.1:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT NP_000268.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACC...
XM_011538422.1:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT XP_011536724.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTC...
NM_000277.2:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT NP_000268.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACC...
NM_001354304.1:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT NP_001341233.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTC...
XM_017019370.2:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT XP_016874859.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTC...
NM_000277.3:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT MANE Select NP_000268.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACC...
NM_001354304.2:c.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTCACCAGACT NP_001341233.1:n.509+866_509+867insGGGCTTTTGAAGAGGCAAGTGGCCTC...
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