Canonical Allele Identifier: CA2620525652
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854836-AAACCTCAGTG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854839_102854848del , CM000674.2:g.102854839_102854848del GRCh38
NC_000012.11:g.103248617_103248626del , CM000674.1:g.103248617_103248626del GRCh37
NC_000012.10:g.101772747_101772756del NCBI36
NG_008690.1:g.67757_67766del
NG_008690.2:g.108565_108574del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+290_706+299del MANE Select ENSP00000448059.1:n.706+290_706+299del
ENST00000307000.7:c.691+290_691+299del ENSP00000303500.2:n.691+290_691+299del
ENST00000549111.5:n.1092_1101del
ENST00000553106.5:c.706+290_706+299del ENSP00000448059.1:n.706+290_706+299del
NM_000277.1:c.706+290_706+299del NP_000268.1:n.706+290_706+299del
XM_011538422.1:c.706+290_706+299del XP_011536724.1:n.706+290_706+299del
NM_000277.2:c.706+290_706+299del NP_000268.1:n.706+290_706+299del
NM_001354304.1:c.706+290_706+299del NP_001341233.1:n.706+290_706+299del
XM_017019370.2:c.707-45_707-36del XP_016874859.1:n.707-45_707-36del
NM_000277.3:c.706+290_706+299del MANE Select NP_000268.1:n.706+290_706+299del
NM_001354304.2:c.706+290_706+299del NP_001341233.1:n.706+290_706+299del
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