Canonical Allele Identifier: CA2059456580
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865705_102865706delinsTG , CM000674.2:g.102865705_102865706delinsTG GRCh38
NC_000012.11:g.103259483_103259484delinsTG , CM000674.1:g.103259483_103259484delinsTG GRCh37
NC_000012.10:g.101783613_101783614delinsTG NCBI36
NG_008690.1:g.56897_56898delinsCA
NG_008690.2:g.97705_97706delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+890_509+891delinsCA MANE Select ENSP00000448059.1:n.509+890_509+891delinsCA
ENST00000307000.7:c.494+890_494+891delinsCA ENSP00000303500.2:n.494+890_494+891delinsCA
ENST00000549111.5:n.605+890_605+891delinsCA
ENST00000551988.5:n.531-10374_531-10373delinsCA
ENST00000553106.5:c.509+890_509+891delinsCA ENSP00000448059.1:n.509+890_509+891delinsCA
NM_000277.1:c.509+890_509+891delinsCA NP_000268.1:n.509+890_509+891delinsCA
XM_011538422.1:c.509+890_509+891delinsCA XP_011536724.1:n.509+890_509+891delinsCA
NM_000277.2:c.509+890_509+891delinsCA NP_000268.1:n.509+890_509+891delinsCA
NM_001354304.1:c.509+890_509+891delinsCA NP_001341233.1:n.509+890_509+891delinsCA
XM_017019370.2:c.509+890_509+891delinsCA XP_016874859.1:n.509+890_509+891delinsCA
NM_000277.3:c.509+890_509+891delinsCA MANE Select NP_000268.1:n.509+890_509+891delinsCA
NM_001354304.2:c.509+890_509+891delinsCA NP_001341233.1:n.509+890_509+891delinsCA
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