Canonical Allele Identifier: CA229463
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 585
ClinVar RCV Id: RCV000000615 RCV000088856
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102893268_102899867delinsCAGGTGCC , CM000674.2:g.102893268_102899867delinsCAGGTGCC GRCh38
NC_000012.11:g.103287046_103293645delinsCAGGTGCC , CM000674.1:g.103287046_103293645delinsCAGGTGCC GRCh37
NC_000012.10:g.101811176_101817775delinsCAGGTGCC NCBI36
NG_008690.1:g.22736_29335delinsGGCACCTG
NG_008690.2:g.63544_70143delinsGGCACCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.169-4949_352+1467delinsGGCACCTG
ENST00000307000.7:c.154-4949_337+1467delinsGGCACCTG
ENST00000548928.1:n.91-4949_274+1467delinsGGCACCTG
ENST00000549111.5:n.265-4949_448+1467delinsGGCACCTG
ENST00000550978.6:c.153-4949_336+1467delinsGGCACCTG
ENST00000551337.5:c.169-4949_352+1467delinsGGCACCTG
ENST00000551988.5:n.258-4949_441+1467delinsGGCACCTG
ENST00000553106.5:c.169-4949_352+1467delinsGGCACCTG
NM_000277.1:c.169-4949_352+1467delinsGGCACCTG
XM_011538422.1:c.169-4949_352+1467delinsGGCACCTG
NM_000277.2:c.169-4949_352+1467delinsGGCACCTG
NM_001354304.1:c.169-4949_352+1467delinsGGCACCTG
XM_017019370.2:c.169-4949_352+1467delinsGGCACCTG
NM_000277.3:c.169-4949_352+1467delinsGGCACCTG
NM_001354304.2:c.169-4949_352+1467delinsGGCACCTG
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