Canonical Allele Identifier: CA2620508701
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102894998-A-ACT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894999_102895000insTC , CM000674.2:g.102894999_102895000insTC GRCh38
NC_000012.11:g.103288777_103288778insTC , CM000674.1:g.103288777_103288778insTC GRCh37
NC_000012.10:g.101812907_101812908insTC NCBI36
NG_008690.1:g.27604_27605insAG
NG_008690.2:g.68412_68413insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-81_169-80insAG MANE Select ENSP00000448059.1:n.169-81_169-80insAG
ENST00000307000.7:c.154-81_154-80insAG ENSP00000303500.2:n.154-81_154-80insAG
ENST00000546844.1:c.169-81_169-80insAG ENSP00000446658.1:n.169-81_169-80insAG
ENST00000548677.2:n.256-81_256-80insAG
ENST00000548928.1:n.91-81_91-80insAG
ENST00000549111.5:n.265-81_265-80insAG
ENST00000550978.6:c.153-81_153-80insAG
ENST00000551337.5:c.169-81_169-80insAG ENSP00000447620.1:n.169-81_169-80insAG
ENST00000551988.5:n.258-81_258-80insAG
ENST00000553106.5:c.169-81_169-80insAG ENSP00000448059.1:n.169-81_169-80insAG
ENST00000635500.1:n.137-81_137-80insAG
NM_000277.1:c.169-81_169-80insAG NP_000268.1:n.169-81_169-80insAG
XM_011538422.1:c.169-81_169-80insAG XP_011536724.1:n.169-81_169-80insAG
NM_000277.2:c.169-81_169-80insAG NP_000268.1:n.169-81_169-80insAG
NM_001354304.1:c.169-81_169-80insAG NP_001341233.1:n.169-81_169-80insAG
XM_017019370.2:c.169-81_169-80insAG XP_016874859.1:n.169-81_169-80insAG
NM_000277.3:c.169-81_169-80insAG MANE Select NP_000268.1:n.169-81_169-80insAG
NM_001354304.2:c.169-81_169-80insAG NP_001341233.1:n.169-81_169-80insAG
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