Canonical Allele Identifier: CA2059447944
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875302448
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854148del , CM000674.2:g.102854148del GRCh38
NC_000012.11:g.103247926del , CM000674.1:g.103247926del GRCh37
NC_000012.10:g.101772056del NCBI36
NG_008690.1:g.68455del
NG_008690.2:g.109263del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+988del MANE Select ENSP00000448059.1:n.706+988del
ENST00000307000.7:c.691+988del ENSP00000303500.2:n.691+988del
ENST00000553106.5:c.706+988del ENSP00000448059.1:n.706+988del
NM_000277.1:c.706+988del NP_000268.1:n.706+988del
XM_011538422.1:c.706+988del XP_011536724.1:n.706+988del
NM_000277.2:c.706+988del NP_000268.1:n.706+988del
NM_001354304.1:c.706+988del NP_001341233.1:n.706+988del
XM_017019370.2:c.*637del XP_016874859.1:n.*637del
NM_000277.3:c.706+988del MANE Select NP_000268.1:n.706+988del
NM_001354304.2:c.706+988del NP_001341233.1:n.706+988del
Search 100 bp 5'
Search 100 bp 3'