Canonical Allele Identifier: CA2059467429
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895090_102895091delinsCT , CM000674.2:g.102895090_102895091delinsCT GRCh38
NC_000012.11:g.103288868_103288869delinsCT , CM000674.1:g.103288868_103288869delinsCT GRCh37
NC_000012.10:g.101812998_101812999delinsCT NCBI36
NG_008690.1:g.27512_27513delinsAG
NG_008690.2:g.68320_68321delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-173_169-172delinsAG MANE Select ENSP00000448059.1:n.169-173_169-172delinsAG
ENST00000307000.7:c.154-173_154-172delinsAG ENSP00000303500.2:n.154-173_154-172delinsAG
ENST00000546844.1:c.169-173_169-172delinsAG ENSP00000446658.1:n.169-173_169-172delinsAG
ENST00000548677.2:n.256-173_256-172delinsAG
ENST00000548928.1:n.91-173_91-172delinsAG
ENST00000549111.5:n.265-173_265-172delinsAG
ENST00000550978.6:c.153-173_153-172delinsAG
ENST00000551337.5:c.169-173_169-172delinsAG ENSP00000447620.1:n.169-173_169-172delinsAG
ENST00000551988.5:n.258-173_258-172delinsAG
ENST00000553106.5:c.169-173_169-172delinsAG ENSP00000448059.1:n.169-173_169-172delinsAG
ENST00000635500.1:n.137-173_137-172delinsAG
NM_000277.1:c.169-173_169-172delinsAG NP_000268.1:n.169-173_169-172delinsAG
XM_011538422.1:c.169-173_169-172delinsAG XP_011536724.1:n.169-173_169-172delinsAG
NM_000277.2:c.169-173_169-172delinsAG NP_000268.1:n.169-173_169-172delinsAG
NM_001354304.1:c.169-173_169-172delinsAG NP_001341233.1:n.169-173_169-172delinsAG
XM_017019370.2:c.169-173_169-172delinsAG XP_016874859.1:n.169-173_169-172delinsAG
NM_000277.3:c.169-173_169-172delinsAG MANE Select NP_000268.1:n.169-173_169-172delinsAG
NM_001354304.2:c.169-173_169-172delinsAG NP_001341233.1:n.169-173_169-172delinsAG
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