Canonical Allele Identifier: CA951241145
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102865829-A-ATACTGTGAGTGACACCTTATTAGTAACTCCTTT
gnomAD v4: 12-102865829-A-ATACTGTGAGTGACACCTTATTAGTAACTCCTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865829_102865830insTACTGTGAGTGACACCTTATTAGTAACTCCTTT , CM000674.2:g.102865829_102865830insTACTGTGAGTGACACCTTATTAGTAACTCCTTT GRCh38
NC_000012.11:g.103259607_103259608insTACTGTGAGTGACACCTTATTAGTAACTCCTTT , CM000674.1:g.103259607_103259608insTACTGTGAGTGACACCTTATTAGTAACTCCTTT GRCh37
NC_000012.10:g.101783737_101783738insTACTGTGAGTGACACCTTATTAGTAACTCCTTT NCBI36
NG_008690.1:g.56773_56774insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA
NG_008690.2:g.97581_97582insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA MANE Select ENSP00000448059.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTC...
ENST00000307000.7:c.494+766_494+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA ENSP00000303500.2:n.494+766_494+767insAAAGGAGTTACTAATAAGGTGTC...
ENST00000549111.5:n.605+766_605+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA
ENST00000551988.5:n.531-10498_531-10497insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA
ENST00000553106.5:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA ENSP00000448059.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTC...
NM_000277.1:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA NP_000268.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCAC...
XM_011538422.1:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA XP_011536724.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACT...
NM_000277.2:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA NP_000268.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCAC...
NM_001354304.1:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA NP_001341233.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACT...
XM_017019370.2:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA XP_016874859.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACT...
NM_000277.3:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA MANE Select NP_000268.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCAC...
NM_001354304.2:c.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACTCACAGTA NP_001341233.1:n.509+766_509+767insAAAGGAGTTACTAATAAGGTGTCACT...
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