Canonical Allele Identifier: CA2059476005
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916753_102916754delinsTA , CM000674.2:g.102916753_102916754delinsTA GRCh38
NC_000012.11:g.103310531_103310532delinsTA , CM000674.1:g.103310531_103310532delinsTA GRCh37
NC_000012.10:g.101834661_101834662delinsTA NCBI36
NG_008690.1:g.5849_5850delinsTA
NG_008690.2:g.46657_46658delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+317_60+318delinsTA MANE Select ENSP00000448059.1:n.60+317_60+318delinsTA
ENST00000307000.7:c.-88+317_-88+318delinsTA ENSP00000303500.2:n.-88+317_-88+318delinsTA
ENST00000546844.1:c.60+317_60+318delinsTA ENSP00000446658.1:n.60+317_60+318delinsTA
ENST00000547319.1:n.372-156_372-155delinsTA
ENST00000549111.5:n.156+317_156+318delinsTA
ENST00000550978.6:c.44+317_44+318delinsTA
ENST00000551337.5:c.60+317_60+318delinsTA ENSP00000447620.1:n.60+317_60+318delinsTA
ENST00000551988.5:n.149+317_149+318delinsTA
ENST00000553106.5:c.60+317_60+318delinsTA ENSP00000448059.1:n.60+317_60+318delinsTA
ENST00000635500.1:n.29-3856_29-3855delinsTA
NM_000277.1:c.60+317_60+318delinsTA NP_000268.1:n.60+317_60+318delinsTA
XM_011538422.1:c.60+317_60+318delinsTA XP_011536724.1:n.60+317_60+318delinsTA
NM_000277.2:c.60+317_60+318delinsTA NP_000268.1:n.60+317_60+318delinsTA
NM_001354304.1:c.60+317_60+318delinsTA NP_001341233.1:n.60+317_60+318delinsTA
XM_017019370.2:c.60+317_60+318delinsTA XP_016874859.1:n.60+317_60+318delinsTA
NM_000277.3:c.60+317_60+318delinsTA MANE Select NP_000268.1:n.60+317_60+318delinsTA
NM_001354304.2:c.60+317_60+318delinsTA NP_001341233.1:n.60+317_60+318delinsTA
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