Canonical Allele Identifier: CA2059456882
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866377_102866378delinsGT , CM000674.2:g.102866377_102866378delinsGT GRCh38
NC_000012.11:g.103260155_103260156delinsGT , CM000674.1:g.103260155_103260156delinsGT GRCh37
NC_000012.10:g.101784285_101784286delinsGT NCBI36
NG_008690.1:g.56225_56226delinsAC
NG_008690.2:g.97033_97034delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+218_509+219delinsAC MANE Select ENSP00000448059.1:n.509+218_509+219delinsAC
ENST00000307000.7:c.494+218_494+219delinsAC ENSP00000303500.2:n.494+218_494+219delinsAC
ENST00000549111.5:n.605+218_605+219delinsAC
ENST00000551988.5:n.531-11046_531-11045delinsAC
ENST00000553106.5:c.509+218_509+219delinsAC ENSP00000448059.1:n.509+218_509+219delinsAC
NM_000277.1:c.509+218_509+219delinsAC NP_000268.1:n.509+218_509+219delinsAC
XM_011538422.1:c.509+218_509+219delinsAC XP_011536724.1:n.509+218_509+219delinsAC
NM_000277.2:c.509+218_509+219delinsAC NP_000268.1:n.509+218_509+219delinsAC
NM_001354304.1:c.509+218_509+219delinsAC NP_001341233.1:n.509+218_509+219delinsAC
XM_017019370.2:c.509+218_509+219delinsAC XP_016874859.1:n.509+218_509+219delinsAC
NM_000277.3:c.509+218_509+219delinsAC MANE Select NP_000268.1:n.509+218_509+219delinsAC
NM_001354304.2:c.509+218_509+219delinsAC NP_001341233.1:n.509+218_509+219delinsAC
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