Canonical Allele Identifier: CA2059448135
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875312154
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854366del , CM000674.2:g.102854366del GRCh38
NC_000012.11:g.103248144del , CM000674.1:g.103248144del GRCh37
NC_000012.10:g.101772274del NCBI36
NG_008690.1:g.68238del
NG_008690.2:g.109046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+771del MANE Select ENSP00000448059.1:n.706+771del
ENST00000307000.7:c.691+771del ENSP00000303500.2:n.691+771del
ENST00000553106.5:c.706+771del ENSP00000448059.1:n.706+771del
NM_000277.1:c.706+771del NP_000268.1:n.706+771del
XM_011538422.1:c.706+771del XP_011536724.1:n.706+771del
NM_000277.2:c.706+771del NP_000268.1:n.706+771del
NM_001354304.1:c.706+771del NP_001341233.1:n.706+771del
XM_017019370.2:c.*420del XP_016874859.1:n.*420del
NM_000277.3:c.706+771del MANE Select NP_000268.1:n.706+771del
NM_001354304.2:c.706+771del NP_001341233.1:n.706+771del
Search 100 bp 5'
Search 100 bp 3'