Canonical Allele Identifier: CA2551759175
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840750_102840754del , CM000674.2:g.102840750_102840754del GRCh38
NC_000012.11:g.103234528_103234532del , CM000674.1:g.103234528_103234532del GRCh37
NC_000012.10:g.101758658_101758662del NCBI36
NG_008690.1:g.81850_81854del
NG_008690.2:g.122658_122662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-238_1200-234del MANE Select ENSP00000448059.1:n.1200-238_1200-234del
ENST00000307000.7:c.1185-238_1185-234del ENSP00000303500.2:n.1185-238_1185-234del
ENST00000549247.6:n.959-238_959-234del
ENST00000551114.2:n.862-238_862-234del
ENST00000553106.5:c.1200-238_1200-234del ENSP00000448059.1:n.1200-238_1200-234del
ENST00000635477.1:c.304-238_304-234del
ENST00000635528.1:n.715-238_715-234del
NM_000277.1:c.1200-238_1200-234del NP_000268.1:n.1200-238_1200-234del
XM_011538422.1:c.1143-238_1143-234del XP_011536724.1:n.1143-238_1143-234del
NM_000277.2:c.1200-238_1200-234del NP_000268.1:n.1200-238_1200-234del
NM_001354304.1:c.1200-238_1200-234del NP_001341233.1:n.1200-238_1200-234del
NM_000277.3:c.1200-238_1200-234del MANE Select NP_000268.1:n.1200-238_1200-234del
NM_001354304.2:c.1200-238_1200-234del NP_001341233.1:n.1200-238_1200-234del
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