Canonical Allele Identifier: CA951260588
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102916909-G-GGCC
gnomAD v4: 12-102916909-G-GGCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916909_102916910insGCC , CM000674.2:g.102916909_102916910insGCC GRCh38
NC_000012.11:g.103310687_103310688insGCC , CM000674.1:g.103310687_103310688insGCC GRCh37
NC_000012.10:g.101834817_101834818insGCC NCBI36
NG_008690.1:g.5693_5694insGGC
NG_008690.2:g.46501_46502insGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+161_60+162insGGC MANE Select ENSP00000448059.1:n.60+161_60+162insGGC
ENST00000307000.7:c.-88+161_-88+162insGGC ENSP00000303500.2:n.-88+161_-88+162insGGC
ENST00000546844.1:c.60+161_60+162insGGC ENSP00000446658.1:n.60+161_60+162insGGC
ENST00000547319.1:n.371+161_371+162insGGC
ENST00000549111.5:n.156+161_156+162insGGC
ENST00000550978.6:c.44+161_44+162insGGC
ENST00000551337.5:c.60+161_60+162insGGC ENSP00000447620.1:n.60+161_60+162insGGC
ENST00000551988.5:n.149+161_149+162insGGC
ENST00000553106.5:c.60+161_60+162insGGC ENSP00000448059.1:n.60+161_60+162insGGC
ENST00000635500.1:n.29-4012_29-4011insGGC
NM_000277.1:c.60+161_60+162insGGC NP_000268.1:n.60+161_60+162insGGC
XM_011538422.1:c.60+161_60+162insGGC XP_011536724.1:n.60+161_60+162insGGC
NM_000277.2:c.60+161_60+162insGGC NP_000268.1:n.60+161_60+162insGGC
NM_001354304.1:c.60+161_60+162insGGC NP_001341233.1:n.60+161_60+162insGGC
XM_017019370.2:c.60+161_60+162insGGC XP_016874859.1:n.60+161_60+162insGGC
NM_000277.3:c.60+161_60+162insGGC MANE Select NP_000268.1:n.60+161_60+162insGGC
NM_001354304.2:c.60+161_60+162insGGC NP_001341233.1:n.60+161_60+162insGGC
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