Canonical Allele Identifier: CA607154906
Community Standard Title: NM_000277.3(PAH):c.706+352_706+353dup
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854783_102854784dup , CM000674.2:g.102854783_102854784dup GRCh38
NC_000012.11:g.103248561_103248562dup , CM000674.1:g.103248561_103248562dup GRCh37
NC_000012.10:g.101772691_101772692dup NCBI36
NG_008690.1:g.67819_67820dup
NG_008690.2:g.108627_108628dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+352_706+353dup MANE Select NP_000268.1:n.706+352_706+353dup
ENST00000553106.6:c.706+352_706+353dup MANE Select ENSP00000448059.1:n.706+352_706+353dup
NM_000277.1:c.706+352_706+353dup NP_000268.1:n.706+352_706+353dup
NM_000277.2:c.706+352_706+353dup NP_000268.1:n.706+352_706+353dup
NM_001354304.1:c.706+352_706+353dup NP_001341233.1:n.706+352_706+353dup
NM_001354304.2:c.706+352_706+353dup NP_001341233.1:n.706+352_706+353dup
ENST00000307000.7:c.691+352_691+353dup ENSP00000303500.2:n.691+352_691+353dup
ENST00000549111.5:n.1154_1155dup
ENST00000553106.5:c.706+352_706+353dup ENSP00000448059.1:n.706+352_706+353dup
XM_011538422.1:c.706+352_706+353dup XP_011536724.1:n.706+352_706+353dup
XM_017019370.2:c.*1_*2dup XP_016874859.1:n.*1_*2dup
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