Canonical Allele Identifier: CA645576936
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM69072
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894793_102894800del , CM000674.2:g.102894793_102894800del GRCh38
NC_000012.11:g.103288571_103288578del , CM000674.1:g.103288571_103288578del GRCh37
NC_000012.10:g.101812701_101812708del NCBI36
NG_008690.1:g.27805_27812del
NG_008690.2:g.68613_68620del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.289_296del MANE Select ENSP00000448059.1:p.Ile97AlafsTer2
ENST00000307000.7:c.274_281del ENSP00000303500.2:p.Ile92AlafsTer2
ENST00000546844.1:c.289_296del ENSP00000446658.1:p.Ile97AlafsTer2
ENST00000548928.1:n.211_218del
ENST00000549111.5:n.385_392del
ENST00000550978.6:c.273_280del
ENST00000551337.5:c.289_296del ENSP00000447620.1:p.Ile97AlafsTer2
ENST00000551988.5:n.378_385del
ENST00000553106.5:c.289_296del ENSP00000448059.1:p.Ile97AlafsTer2
NM_000277.1:c.289_296del NP_000268.1:p.Ile97AlafsTer2
XM_011538422.1:c.289_296del XP_011536724.1:p.Ile97AlafsTer2
NM_000277.2:c.289_296del NP_000268.1:p.Ile97AlafsTer2
NM_001354304.1:c.289_296del NP_001341233.1:p.Ile97AlafsTer2
XM_017019370.2:c.289_296del XP_016874859.1:p.Ile97AlafsTer2
NM_000277.3:c.289_296del MANE Select NP_000268.1:p.Ile97AlafsTer2
NM_001354304.2:c.289_296del NP_001341233.1:p.Ile97AlafsTer2
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