Canonical Allele Identifier: CA2059448015
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854255_102854256delinsTG , CM000674.2:g.102854255_102854256delinsTG GRCh38
NC_000012.11:g.103248033_103248034delinsTG , CM000674.1:g.103248033_103248034delinsTG GRCh37
NC_000012.10:g.101772163_101772164delinsTG NCBI36
NG_008690.1:g.68347_68348delinsCA
NG_008690.2:g.109155_109156delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+880_706+881delinsCA MANE Select ENSP00000448059.1:n.706+880_706+881delinsCA
ENST00000307000.7:c.691+880_691+881delinsCA ENSP00000303500.2:n.691+880_691+881delinsCA
ENST00000553106.5:c.706+880_706+881delinsCA ENSP00000448059.1:n.706+880_706+881delinsCA
NM_000277.1:c.706+880_706+881delinsCA NP_000268.1:n.706+880_706+881delinsCA
XM_011538422.1:c.706+880_706+881delinsCA XP_011536724.1:n.706+880_706+881delinsCA
NM_000277.2:c.706+880_706+881delinsCA NP_000268.1:n.706+880_706+881delinsCA
NM_001354304.1:c.706+880_706+881delinsCA NP_001341233.1:n.706+880_706+881delinsCA
XM_017019370.2:c.*529_*530delinsCA XP_016874859.1:n.*529_*530delinsCA
NM_000277.3:c.706+880_706+881delinsCA MANE Select NP_000268.1:n.706+880_706+881delinsCA
NM_001354304.2:c.706+880_706+881delinsCA NP_001341233.1:n.706+880_706+881delinsCA
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