Canonical Allele Identifier: CA229574
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102696
dbSNP Id: rs62642906

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917087_102917088del , CM000674.2:g.102917087_102917088del GRCh38
NC_000012.11:g.103310865_103310866del , CM000674.1:g.103310865_103310866del GRCh37
NC_000012.10:g.101834995_101834996del NCBI36
NG_008690.1:g.5519_5520del
NG_008690.2:g.46327_46328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.47_48del MANE Select ENSP00000448059.1:p.Ser16Ter
ENST00000307000.7:c.-101_-100del ENSP00000303500.2:n.-101_-100del
ENST00000546844.1:c.47_48del ENSP00000446658.1:p.Ser16Ter
ENST00000547319.1:n.358_359del
ENST00000549111.5:n.143_144del
ENST00000550978.6:c.31_32del
ENST00000551337.5:c.47_48del ENSP00000447620.1:p.Ser16Ter
ENST00000551988.5:n.136_137del
ENST00000553106.5:c.47_48del ENSP00000448059.1:p.Ser16Ter
ENST00000635500.1:n.29-4186_29-4185del
NM_000277.1:c.47_48del NP_000268.1:p.Ser16Ter
XM_011538422.1:c.47_48del XP_011536724.1:p.Ser16Ter
NM_000277.2:c.47_48del NP_000268.1:p.Ser16Ter
NM_001354304.1:c.47_48del NP_001341233.1:p.Ser16Ter
XM_017019370.2:c.47_48del XP_016874859.1:p.Ser16Ter
NM_000277.3:c.47_48del MANE Select NP_000268.1:p.Ser16Ter
NM_001354304.2:c.47_48del NP_001341233.1:p.Ser16Ter