Canonical Allele Identifier: CA2525950318
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894536_102894537insAAGATAGCTATT , CM000674.2:g.102894536_102894537insAAGATAGCTATT GRCh38
NC_000012.11:g.103288314_103288315insAAGATAGCTATT , CM000674.1:g.103288314_103288315insAAGATAGCTATT GRCh37
NC_000012.10:g.101812444_101812445insAAGATAGCTATT NCBI36
NG_008690.1:g.28066_28067insAATAGCTATCTT
NG_008690.2:g.68874_68875insAATAGCTATCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+198_352+199insAATAGCTATCTT MANE Select ENSP00000448059.1:n.352+198_352+199insAATAGCTATCTT
ENST00000307000.7:c.337+198_337+199insAATAGCTATCTT ENSP00000303500.2:n.337+198_337+199insAATAGCTATCTT
ENST00000548928.1:n.274+198_274+199insAATAGCTATCTT
ENST00000549111.5:n.448+198_448+199insAATAGCTATCTT
ENST00000550978.6:c.336+198_336+199insAATAGCTATCTT
ENST00000551337.5:c.352+198_352+199insAATAGCTATCTT ENSP00000447620.1:n.352+198_352+199insAATAGCTATCTT
ENST00000551988.5:n.441+198_441+199insAATAGCTATCTT
ENST00000553106.5:c.352+198_352+199insAATAGCTATCTT ENSP00000448059.1:n.352+198_352+199insAATAGCTATCTT
NM_000277.1:c.352+198_352+199insAATAGCTATCTT NP_000268.1:n.352+198_352+199insAATAGCTATCTT
XM_011538422.1:c.352+198_352+199insAATAGCTATCTT XP_011536724.1:n.352+198_352+199insAATAGCTATCTT
NM_000277.2:c.352+198_352+199insAATAGCTATCTT NP_000268.1:n.352+198_352+199insAATAGCTATCTT
NM_001354304.1:c.352+198_352+199insAATAGCTATCTT NP_001341233.1:n.352+198_352+199insAATAGCTATCTT
XM_017019370.2:c.352+198_352+199insAATAGCTATCTT XP_016874859.1:n.352+198_352+199insAATAGCTATCTT
NM_000277.3:c.352+198_352+199insAATAGCTATCTT MANE Select NP_000268.1:n.352+198_352+199insAATAGCTATCTT
NM_001354304.2:c.352+198_352+199insAATAGCTATCTT NP_001341233.1:n.352+198_352+199insAATAGCTATCTT
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