Canonical Allele Identifier: CA2601918647
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136727871
gnomAD v3: 12-102912721-CATCT-C
gnomAD v4: 12-102912721-CATCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912723_102912726del , CM000674.2:g.102912723_102912726del GRCh38
NC_000012.11:g.103306501_103306504del , CM000674.1:g.103306501_103306504del GRCh37
NC_000012.10:g.101830631_101830634del NCBI36
NG_008690.1:g.9878_9881del
NG_008690.2:g.50686_50689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+66_168+69del MANE Select ENSP00000448059.1:n.168+66_168+69del
ENST00000307000.7:c.153+66_153+69del ENSP00000303500.2:n.153+66_153+69del
ENST00000546844.1:c.168+66_168+69del ENSP00000446658.1:n.168+66_168+69del
ENST00000548677.2:n.255+66_255+69del
ENST00000548928.1:n.90+66_90+69del
ENST00000549111.5:n.264+66_264+69del
ENST00000550978.6:c.152+66_152+69del
ENST00000551337.5:c.168+66_168+69del ENSP00000447620.1:n.168+66_168+69del
ENST00000551988.5:n.257+66_257+69del
ENST00000553106.5:c.168+66_168+69del ENSP00000448059.1:n.168+66_168+69del
ENST00000635500.1:n.136+66_136+69del
NM_000277.1:c.168+66_168+69del NP_000268.1:n.168+66_168+69del
XM_011538422.1:c.168+66_168+69del XP_011536724.1:n.168+66_168+69del
NM_000277.2:c.168+66_168+69del NP_000268.1:n.168+66_168+69del
NM_001354304.1:c.168+66_168+69del NP_001341233.1:n.168+66_168+69del
XM_017019370.2:c.168+66_168+69del XP_016874859.1:n.168+66_168+69del
NM_000277.3:c.168+66_168+69del MANE Select NP_000268.1:n.168+66_168+69del
NM_001354304.2:c.168+66_168+69del NP_001341233.1:n.168+66_168+69del
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