Canonical Allele Identifier: CA951260654
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102916911-G-GCACTTTGGGAGGCCGAGGCGGGCGGATCAC
gnomAD v4: 12-102916911-G-GCACTTTGGGAGGCCGAGGCGGGCGGATCAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916911_102916912insCACTTTGGGAGGCCGAGGCGGGCGGATCAC , CM000674.2:g.102916911_102916912insCACTTTGGGAGGCCGAGGCGGGCGGATCAC GRCh38
NC_000012.11:g.103310689_103310690insCACTTTGGGAGGCCGAGGCGGGCGGATCAC , CM000674.1:g.103310689_103310690insCACTTTGGGAGGCCGAGGCGGGCGGATCAC GRCh37
NC_000012.10:g.101834819_101834820insCACTTTGGGAGGCCGAGGCGGGCGGATCAC NCBI36
NG_008690.1:g.5691_5692insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
NG_008690.2:g.46499_46500insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG MANE Select ENSP00000448059.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCA...
ENST00000307000.7:c.-88+159_-88+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG ENSP00000303500.2:n.-88+159_-88+160insGTGATCCGCCCGCCTCGGCCTCC...
ENST00000546844.1:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG ENSP00000446658.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCA...
ENST00000547319.1:n.371+159_371+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
ENST00000549111.5:n.156+159_156+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
ENST00000550978.6:c.44+159_44+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
ENST00000551337.5:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG ENSP00000447620.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCA...
ENST00000551988.5:n.149+159_149+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
ENST00000553106.5:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG ENSP00000448059.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCA...
ENST00000635500.1:n.29-4014_29-4013insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
NM_000277.1:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG NP_000268.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
XM_011538422.1:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG XP_011536724.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAG...
NM_000277.2:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG NP_000268.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
NM_001354304.1:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG NP_001341233.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAG...
XM_017019370.2:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG XP_016874859.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAG...
NM_000277.3:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG MANE Select NP_000268.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
NM_001354304.2:c.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAGTG NP_001341233.1:n.60+159_60+160insGTGATCCGCCCGCCTCGGCCTCCCAAAG...
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