Canonical Allele Identifier: CA607148725
Gene: PAH HGNC NCBI

Linked Data

gnomAD v2: 12-103310686-T-TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG
gnomAD v3: 12-102916908-T-TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG
gnomAD v4: 12-102916908-T-TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG
MyVariant Identifiers: chr12:g.103310686_103310687insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG (hg19) chr12:g.102916908_102916909insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916909_102916910insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG , CM000674.2:g.102916909_102916910insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG GRCh38
NC_000012.11:g.103310687_103310688insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG , CM000674.1:g.103310687_103310688insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG GRCh37
NC_000012.10:g.101834817_101834818insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG NCBI36
NG_008690.1:g.5694_5695insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NG_008690.2:g.46502_46503insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC MANE Select ENSP00000448059.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTG...
ENST00000307000.7:c.-88+162_-88+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC ENSP00000303500.2:n.-88+162_-88+163insCCAAAGTGCTGGGATTACAGGCG...
ENST00000546844.1:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC ENSP00000446658.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTG...
ENST00000547319.1:n.371+162_371+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
ENST00000549111.5:n.156+162_156+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
ENST00000550978.6:c.44+162_44+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
ENST00000551337.5:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC ENSP00000447620.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTG...
ENST00000551988.5:n.149+162_149+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
ENST00000553106.5:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC ENSP00000448059.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTG...
ENST00000635500.1:n.29-4011_29-4010insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_000277.1:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC NP_000268.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCAC...
XM_011538422.1:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC XP_011536724.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGC...
NM_000277.2:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC NP_000268.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCAC...
NM_001354304.1:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC NP_001341233.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGC...
XM_017019370.2:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC XP_016874859.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGC...
NM_000277.3:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC MANE Select NP_000268.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCAC...
NM_001354304.2:c.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC NP_001341233.1:n.60+162_60+163insCCAAAGTGCTGGGATTACAGGCGTGAGC...
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