Canonical Allele Identifier: CA2059450430
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894383_102894385delinsAAG , CM000674.2:g.102894383_102894385delinsAAG GRCh38
NC_000012.11:g.103288161_103288163delinsAAG , CM000674.1:g.103288161_103288163delinsAAG GRCh37
NC_000012.10:g.101812291_101812293delinsAAG NCBI36
NG_008690.1:g.28218_28220delinsCTT
NG_008690.2:g.69026_69028delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+350_352+352delinsCTT MANE Select ENSP00000448059.1:n.352+350_352+352delinsCTT
ENST00000307000.7:c.337+350_337+352delinsCTT ENSP00000303500.2:n.337+350_337+352delinsCTT
ENST00000548928.1:n.274+350_274+352delinsCTT
ENST00000549111.5:n.448+350_448+352delinsCTT
ENST00000550978.6:c.336+350_336+352delinsCTT
ENST00000551337.5:c.352+350_352+352delinsCTT ENSP00000447620.1:n.352+350_352+352delinsCTT
ENST00000551988.5:n.441+350_441+352delinsCTT
ENST00000553106.5:c.352+350_352+352delinsCTT ENSP00000448059.1:n.352+350_352+352delinsCTT
NM_000277.1:c.352+350_352+352delinsCTT NP_000268.1:n.352+350_352+352delinsCTT
XM_011538422.1:c.352+350_352+352delinsCTT XP_011536724.1:n.352+350_352+352delinsCTT
NM_000277.2:c.352+350_352+352delinsCTT NP_000268.1:n.352+350_352+352delinsCTT
NM_001354304.1:c.352+350_352+352delinsCTT NP_001341233.1:n.352+350_352+352delinsCTT
XM_017019370.2:c.352+350_352+352delinsCTT XP_016874859.1:n.352+350_352+352delinsCTT
NM_000277.3:c.352+350_352+352delinsCTT MANE Select NP_000268.1:n.352+350_352+352delinsCTT
NM_001354304.2:c.352+350_352+352delinsCTT NP_001341233.1:n.352+350_352+352delinsCTT
Search 100 bp 5'
Search 100 bp 3'