Canonical Allele Identifier: CA2695217177
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917072_102917076del , CM000674.2:g.102917072_102917076del GRCh38
NC_000012.11:g.103310850_103310854del , CM000674.1:g.103310850_103310854del GRCh37
NC_000012.10:g.101834980_101834984del NCBI36
NG_008690.1:g.5529_5533del
NG_008690.2:g.46337_46341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.57_60+1del
ENST00000307000.7:c.-91_-88+1del
ENST00000546844.1:c.57_60+1del
ENST00000547319.1:n.368_371+1del
ENST00000549111.5:n.153_156+1del
ENST00000550978.6:c.41_44+1del
ENST00000551337.5:c.57_60+1del
ENST00000551988.5:n.146_149+1del
ENST00000553106.5:c.57_60+1del
ENST00000635500.1:n.29-4176_29-4172del
NM_000277.1:c.57_60+1del
XM_011538422.1:c.57_60+1del
NM_000277.2:c.57_60+1del
NM_001354304.1:c.57_60+1del
XM_017019370.2:c.57_60+1del
NM_000277.3:c.57_60+1del
NM_001354304.2:c.57_60+1del
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