Canonical Allele Identifier: CA2620525774
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854889-GAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854891_102854892del , CM000674.2:g.102854891_102854892del GRCh38
NC_000012.11:g.103248669_103248670del , CM000674.1:g.103248669_103248670del GRCh37
NC_000012.10:g.101772799_101772800del NCBI36
NG_008690.1:g.67712_67713del
NG_008690.2:g.108520_108521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+245_706+246del MANE Select ENSP00000448059.1:n.706+245_706+246del
ENST00000307000.7:c.691+245_691+246del ENSP00000303500.2:n.691+245_691+246del
ENST00000549111.5:n.1047_1048del
ENST00000553106.5:c.706+245_706+246del ENSP00000448059.1:n.706+245_706+246del
NM_000277.1:c.706+245_706+246del NP_000268.1:n.706+245_706+246del
XM_011538422.1:c.706+245_706+246del XP_011536724.1:n.706+245_706+246del
NM_000277.2:c.706+245_706+246del NP_000268.1:n.706+245_706+246del
NM_001354304.1:c.706+245_706+246del NP_001341233.1:n.706+245_706+246del
XM_017019370.2:c.707-90_707-89del XP_016874859.1:n.707-90_707-89del
NM_000277.3:c.706+245_706+246del MANE Select NP_000268.1:n.706+245_706+246del
NM_001354304.2:c.706+245_706+246del NP_001341233.1:n.706+245_706+246del
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