Canonical Allele Identifier: CA607148731
Gene: PAH HGNC NCBI

Linked Data

gnomAD v2: 12-103310688-A-ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG
gnomAD v3: 12-102916910-A-ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG
gnomAD v4: 12-102916910-A-ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG
MyVariant Identifiers: chr12:g.103310688_103310689insCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG (hg19) chr12:g.102916910_102916911insCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916910_102916911insCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG , CM000674.2:g.102916910_102916911insCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GRCh38
NC_000012.11:g.103310688_103310689insCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG , CM000674.1:g.103310688_103310689insCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GRCh37
NC_000012.10:g.101834818_101834819insCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG NCBI36
NG_008690.1:g.5692_5693insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
NG_008690.2:g.46500_46501insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG MANE Select ENSP00000448059.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGG...
ENST00000307000.7:c.-88+160_-88+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG ENSP00000303500.2:n.-88+160_-88+161insCGCCTCGGCCTCCCAAAGTGCTG...
ENST00000546844.1:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG ENSP00000446658.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGG...
ENST00000547319.1:n.371+160_371+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
ENST00000549111.5:n.156+160_156+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
ENST00000550978.6:c.44+160_44+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
ENST00000551337.5:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG ENSP00000447620.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGG...
ENST00000551988.5:n.149+160_149+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
ENST00000553106.5:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG ENSP00000448059.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGG...
ENST00000635500.1:n.29-4013_29-4012insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
NM_000277.1:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG NP_000268.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACA...
XM_011538422.1:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG XP_011536724.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATT...
NM_000277.2:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG NP_000268.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACA...
NM_001354304.1:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG NP_001341233.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATT...
XM_017019370.2:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG XP_016874859.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATT...
NM_000277.3:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG MANE Select NP_000268.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACA...
NM_001354304.2:c.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG NP_001341233.1:n.60+160_60+161insCGCCTCGGCCTCCCAAAGTGCTGGGATT...
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