Canonical Allele Identifier: CA2059462356
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877295_102877299delinsCAATA , CM000674.2:g.102877295_102877299delinsCAATA GRCh38
NC_000012.11:g.103271073_103271077delinsCAATA , CM000674.1:g.103271073_103271077delinsCAATA GRCh37
NC_000012.10:g.101795203_101795207delinsCAATA NCBI36
NG_008690.1:g.45304_45308delinsTATTG
NG_008690.2:g.86112_86116delinsTATTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+163_441+167delinsTATTG MANE Select ENSP00000448059.1:n.441+163_441+167delinsTATTG
ENST00000307000.7:c.426+163_426+167delinsTATTG ENSP00000303500.2:n.426+163_426+167delinsTATTG
ENST00000549111.5:n.537+163_537+167delinsTATTG
ENST00000550978.6:c.588_592delinsTATTG
ENST00000551988.5:n.530+163_530+167delinsTATTG
ENST00000553106.5:c.441+163_441+167delinsTATTG ENSP00000448059.1:n.441+163_441+167delinsTATTG
NM_000277.1:c.441+163_441+167delinsTATTG NP_000268.1:n.441+163_441+167delinsTATTG
XM_011538422.1:c.441+163_441+167delinsTATTG XP_011536724.1:n.441+163_441+167delinsTATTG
NM_000277.2:c.441+163_441+167delinsTATTG NP_000268.1:n.441+163_441+167delinsTATTG
NM_001354304.1:c.441+163_441+167delinsTATTG NP_001341233.1:n.441+163_441+167delinsTATTG
XM_017019370.2:c.441+163_441+167delinsTATTG XP_016874859.1:n.441+163_441+167delinsTATTG
NM_000277.3:c.441+163_441+167delinsTATTG MANE Select NP_000268.1:n.441+163_441+167delinsTATTG
NM_001354304.2:c.441+163_441+167delinsTATTG NP_001341233.1:n.441+163_441+167delinsTATTG
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