Canonical Allele Identifier: CA2059442488
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840736_102840738delinsCAT , CM000674.2:g.102840736_102840738delinsCAT GRCh38
NC_000012.11:g.103234514_103234516delinsCAT , CM000674.1:g.103234514_103234516delinsCAT GRCh37
NC_000012.10:g.101758644_101758646delinsCAT NCBI36
NG_008690.1:g.81865_81867delinsATG
NG_008690.2:g.122673_122675delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-223_1200-221delinsATG MANE Select ENSP00000448059.1:n.1200-223_1200-221delinsATG
ENST00000307000.7:c.1185-223_1185-221delinsATG ENSP00000303500.2:n.1185-223_1185-221delinsATG
ENST00000549247.6:n.959-223_959-221delinsATG
ENST00000551114.2:n.862-223_862-221delinsATG
ENST00000553106.5:c.1200-223_1200-221delinsATG ENSP00000448059.1:n.1200-223_1200-221delinsATG
ENST00000635477.1:c.304-223_304-221delinsATG
ENST00000635528.1:n.715-223_715-221delinsATG
NM_000277.1:c.1200-223_1200-221delinsATG NP_000268.1:n.1200-223_1200-221delinsATG
XM_011538422.1:c.1143-223_1143-221delinsATG XP_011536724.1:n.1143-223_1143-221delinsATG
NM_000277.2:c.1200-223_1200-221delinsATG NP_000268.1:n.1200-223_1200-221delinsATG
NM_001354304.1:c.1200-223_1200-221delinsATG NP_001341233.1:n.1200-223_1200-221delinsATG
NM_000277.3:c.1200-223_1200-221delinsATG MANE Select NP_000268.1:n.1200-223_1200-221delinsATG
NM_001354304.2:c.1200-223_1200-221delinsATG NP_001341233.1:n.1200-223_1200-221delinsATG
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