Canonical Allele Identifier: CA3053342592
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846859_102846860insCTT , CM000674.2:g.102846859_102846860insCTT GRCh38
NC_000012.11:g.103240637_103240638insCTT , CM000674.1:g.103240637_103240638insCTT GRCh37
NC_000012.10:g.101764767_101764768insCTT NCBI36
NG_008690.1:g.75743_75744insAAG
NG_008690.2:g.116551_116552insAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+35_969+36insAAG MANE Select ENSP00000448059.1:n.969+35_969+36insAAG
ENST00000307000.7:c.954+35_954+36insAAG ENSP00000303500.2:n.954+35_954+36insAAG
ENST00000549247.6:n.728+35_728+36insAAG
ENST00000551114.2:n.631+35_631+36insAAG
ENST00000553106.5:c.969+35_969+36insAAG ENSP00000448059.1:n.969+35_969+36insAAG
ENST00000635477.1:c.74-2429_74-2428insAAG
ENST00000635528.1:n.484+35_484+36insAAG
NM_000277.1:c.969+35_969+36insAAG NP_000268.1:n.969+35_969+36insAAG
XM_011538422.1:c.913-2429_913-2428insAAG XP_011536724.1:n.913-2429_913-2428insAAG
NM_000277.2:c.969+35_969+36insAAG NP_000268.1:n.969+35_969+36insAAG
NM_001354304.1:c.969+35_969+36insAAG NP_001341233.1:n.969+35_969+36insAAG
NM_000277.3:c.969+35_969+36insAAG MANE Select NP_000268.1:n.969+35_969+36insAAG
NM_001354304.2:c.969+35_969+36insAAG NP_001341233.1:n.969+35_969+36insAAG
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