Canonical Allele Identifier: CA2620511089
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917294-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917294_102917295insA , CM000674.2:g.102917294_102917295insA GRCh38
NC_000012.11:g.103311072_103311073insA , CM000674.1:g.103311072_103311073insA GRCh37
NC_000012.10:g.101835202_101835203insA NCBI36
NG_008690.1:g.5308_5309insT
NG_008690.2:g.46116_46117insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-70_493-69insT
ENST00000546844.1:c.-95-70_-95-69insT ENSP00000446658.1:n.-95-70_-95-69insT
ENST00000547319.1:n.217-70_217-69insT
ENST00000551337.5:c.-95-70_-95-69insT ENSP00000447620.1:n.-95-70_-95-69insT
ENST00000553106.5:c.-165_-164insT ENSP00000448059.1:n.-165_-164insT
ENST00000635500.1:n.29-4397_29-4396insT
NM_000277.1:c.-165_-164insT NP_000268.1:n.-165_-164insT
NM_000277.2:c.-165_-164insT NP_000268.1:n.-165_-164insT
NM_001354304.1:c.-95-70_-95-69insT NP_001341233.1:n.-95-70_-95-69insT
NM_001354304.2:c.-95-70_-95-69insT NP_001341233.1:n.-95-70_-95-69insT
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