Canonical Allele Identifier: CA2620525590
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854824-CAAAACAAAAA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854830_102854839del , CM000674.2:g.102854830_102854839del GRCh38
NC_000012.11:g.103248608_103248617del , CM000674.1:g.103248608_103248617del GRCh37
NC_000012.10:g.101772738_101772747del NCBI36
NG_008690.1:g.67769_67778del
NG_008690.2:g.108577_108586del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+302_706+311del MANE Select ENSP00000448059.1:n.706+302_706+311del
ENST00000307000.7:c.691+302_691+311del ENSP00000303500.2:n.691+302_691+311del
ENST00000549111.5:n.1104_1113del
ENST00000553106.5:c.706+302_706+311del ENSP00000448059.1:n.706+302_706+311del
NM_000277.1:c.706+302_706+311del NP_000268.1:n.706+302_706+311del
XM_011538422.1:c.706+302_706+311del XP_011536724.1:n.706+302_706+311del
NM_000277.2:c.706+302_706+311del NP_000268.1:n.706+302_706+311del
NM_001354304.1:c.706+302_706+311del NP_001341233.1:n.706+302_706+311del
XM_017019370.2:c.707-33_707-24del XP_016874859.1:n.707-33_707-24del
NM_000277.3:c.706+302_706+311del MANE Select NP_000268.1:n.706+302_706+311del
NM_001354304.2:c.706+302_706+311del NP_001341233.1:n.706+302_706+311del
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