Canonical Allele Identifier: CA2601918731
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136648562
gnomAD v3: 12-102854687-AAGG-A
gnomAD v4: 12-102854687-AAGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854688_102854690del , CM000674.2:g.102854688_102854690del GRCh38
NC_000012.11:g.103248466_103248468del , CM000674.1:g.103248466_103248468del GRCh37
NC_000012.10:g.101772596_101772598del NCBI36
NG_008690.1:g.67913_67915del
NG_008690.2:g.108721_108723del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+446_706+448del MANE Select ENSP00000448059.1:n.706+446_706+448del
ENST00000307000.7:c.691+446_691+448del ENSP00000303500.2:n.691+446_691+448del
ENST00000549111.5:n.1248_1250del
ENST00000553106.5:c.706+446_706+448del ENSP00000448059.1:n.706+446_706+448del
NM_000277.1:c.706+446_706+448del NP_000268.1:n.706+446_706+448del
XM_011538422.1:c.706+446_706+448del XP_011536724.1:n.706+446_706+448del
NM_000277.2:c.706+446_706+448del NP_000268.1:n.706+446_706+448del
NM_001354304.1:c.706+446_706+448del NP_001341233.1:n.706+446_706+448del
XM_017019370.2:c.*95_*97del XP_016874859.1:n.*95_*97del
NM_000277.3:c.706+446_706+448del MANE Select NP_000268.1:n.706+446_706+448del
NM_001354304.2:c.706+446_706+448del NP_001341233.1:n.706+446_706+448del
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