Canonical Allele Identifier: CA2620517829
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854717-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854720_102854721del , CM000674.2:g.102854720_102854721del GRCh38
NC_000012.11:g.103248498_103248499del , CM000674.1:g.103248498_103248499del GRCh37
NC_000012.10:g.101772628_101772629del NCBI36
NG_008690.1:g.67884_67885del
NG_008690.2:g.108692_108693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+417_706+418del MANE Select ENSP00000448059.1:n.706+417_706+418del
ENST00000307000.7:c.691+417_691+418del ENSP00000303500.2:n.691+417_691+418del
ENST00000549111.5:n.1219_1220del
ENST00000553106.5:c.706+417_706+418del ENSP00000448059.1:n.706+417_706+418del
NM_000277.1:c.706+417_706+418del NP_000268.1:n.706+417_706+418del
XM_011538422.1:c.706+417_706+418del XP_011536724.1:n.706+417_706+418del
NM_000277.2:c.706+417_706+418del NP_000268.1:n.706+417_706+418del
NM_001354304.1:c.706+417_706+418del NP_001341233.1:n.706+417_706+418del
XM_017019370.2:c.*66_*67del XP_016874859.1:n.*66_*67del
NM_000277.3:c.706+417_706+418del MANE Select NP_000268.1:n.706+417_706+418del
NM_001354304.2:c.706+417_706+418del NP_001341233.1:n.706+417_706+418del
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