Canonical Allele Identifier: CA2524344869
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840739_102840746del , CM000674.2:g.102840739_102840746del GRCh38
NC_000012.11:g.103234517_103234524del , CM000674.1:g.103234517_103234524del GRCh37
NC_000012.10:g.101758647_101758654del NCBI36
NG_008690.1:g.81858_81865del
NG_008690.2:g.122666_122673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-230_1200-223del MANE Select ENSP00000448059.1:n.1200-230_1200-223del
ENST00000307000.7:c.1185-230_1185-223del ENSP00000303500.2:n.1185-230_1185-223del
ENST00000549247.6:n.959-230_959-223del
ENST00000551114.2:n.862-230_862-223del
ENST00000553106.5:c.1200-230_1200-223del ENSP00000448059.1:n.1200-230_1200-223del
ENST00000635477.1:c.304-230_304-223del
ENST00000635528.1:n.715-230_715-223del
NM_000277.1:c.1200-230_1200-223del NP_000268.1:n.1200-230_1200-223del
XM_011538422.1:c.1143-230_1143-223del XP_011536724.1:n.1143-230_1143-223del
NM_000277.2:c.1200-230_1200-223del NP_000268.1:n.1200-230_1200-223del
NM_001354304.1:c.1200-230_1200-223del NP_001341233.1:n.1200-230_1200-223del
NM_000277.3:c.1200-230_1200-223del MANE Select NP_000268.1:n.1200-230_1200-223del
NM_001354304.2:c.1200-230_1200-223del NP_001341233.1:n.1200-230_1200-223del
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