Canonical Allele Identifier: CA607154904
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854785_102854791del , CM000674.2:g.102854785_102854791del GRCh38
NC_000012.11:g.103248563_103248569del , CM000674.1:g.103248563_103248569del GRCh37
NC_000012.10:g.101772693_101772699del NCBI36
NG_008690.1:g.67816_67822del
NG_008690.2:g.108624_108630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+349_706+355del MANE Select ENSP00000448059.1:n.706+349_706+355del
ENST00000307000.7:c.691+349_691+355del ENSP00000303500.2:n.691+349_691+355del
ENST00000549111.5:n.1151_1157del
ENST00000553106.5:c.706+349_706+355del ENSP00000448059.1:n.706+349_706+355del
NM_000277.1:c.706+349_706+355del NP_000268.1:n.706+349_706+355del
XM_011538422.1:c.706+349_706+355del XP_011536724.1:n.706+349_706+355del
NM_000277.2:c.706+349_706+355del NP_000268.1:n.706+349_706+355del
NM_001354304.1:c.706+349_706+355del NP_001341233.1:n.706+349_706+355del
XM_017019370.2:c.721_*4del XP_016874859.1:n.[c.721_*4del;Ter241GlyextTer28]
NM_000277.3:c.706+349_706+355del MANE Select NP_000268.1:n.706+349_706+355del
NM_001354304.2:c.706+349_706+355del NP_001341233.1:n.706+349_706+355del
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