Canonical Allele Identifier: CA2620508710
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102895000-CTA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895001_102895002del , CM000674.2:g.102895001_102895002del GRCh38
NC_000012.11:g.103288779_103288780del , CM000674.1:g.103288779_103288780del GRCh37
NC_000012.10:g.101812909_101812910del NCBI36
NG_008690.1:g.27601_27602del
NG_008690.2:g.68409_68410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-84_169-83del MANE Select ENSP00000448059.1:n.169-84_169-83del
ENST00000307000.7:c.154-84_154-83del ENSP00000303500.2:n.154-84_154-83del
ENST00000546844.1:c.169-84_169-83del ENSP00000446658.1:n.169-84_169-83del
ENST00000548677.2:n.256-84_256-83del
ENST00000548928.1:n.91-84_91-83del
ENST00000549111.5:n.265-84_265-83del
ENST00000550978.6:c.153-84_153-83del
ENST00000551337.5:c.169-84_169-83del ENSP00000447620.1:n.169-84_169-83del
ENST00000551988.5:n.258-84_258-83del
ENST00000553106.5:c.169-84_169-83del ENSP00000448059.1:n.169-84_169-83del
ENST00000635500.1:n.137-84_137-83del
NM_000277.1:c.169-84_169-83del NP_000268.1:n.169-84_169-83del
XM_011538422.1:c.169-84_169-83del XP_011536724.1:n.169-84_169-83del
NM_000277.2:c.169-84_169-83del NP_000268.1:n.169-84_169-83del
NM_001354304.1:c.169-84_169-83del NP_001341233.1:n.169-84_169-83del
XM_017019370.2:c.169-84_169-83del XP_016874859.1:n.169-84_169-83del
NM_000277.3:c.169-84_169-83del MANE Select NP_000268.1:n.169-84_169-83del
NM_001354304.2:c.169-84_169-83del NP_001341233.1:n.169-84_169-83del
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