Canonical Allele Identifier: CA951241363
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102866097-C-CAAAAAA
gnomAD v4: 12-102866097-C-CAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866098_102866099insAAAAAA , CM000674.2:g.102866098_102866099insAAAAAA GRCh38
NC_000012.11:g.103259876_103259877insAAAAAA , CM000674.1:g.103259876_103259877insAAAAAA GRCh37
NC_000012.10:g.101784006_101784007insAAAAAA NCBI36
NG_008690.1:g.56505_56506insTTTTTT
NG_008690.2:g.97313_97314insTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+498_509+499insTTTTTT MANE Select ENSP00000448059.1:n.509+498_509+499insTTTTTT
ENST00000307000.7:c.494+498_494+499insTTTTTT ENSP00000303500.2:n.494+498_494+499insTTTTTT
ENST00000549111.5:n.605+498_605+499insTTTTTT
ENST00000551988.5:n.531-10766_531-10765insTTTTTT
ENST00000553106.5:c.509+498_509+499insTTTTTT ENSP00000448059.1:n.509+498_509+499insTTTTTT
NM_000277.1:c.509+498_509+499insTTTTTT NP_000268.1:n.509+498_509+499insTTTTTT
XM_011538422.1:c.509+498_509+499insTTTTTT XP_011536724.1:n.509+498_509+499insTTTTTT
NM_000277.2:c.509+498_509+499insTTTTTT NP_000268.1:n.509+498_509+499insTTTTTT
NM_001354304.1:c.509+498_509+499insTTTTTT NP_001341233.1:n.509+498_509+499insTTTTTT
XM_017019370.2:c.509+498_509+499insTTTTTT XP_016874859.1:n.509+498_509+499insTTTTTT
NM_000277.3:c.509+498_509+499insTTTTTT MANE Select NP_000268.1:n.509+498_509+499insTTTTTT
NM_001354304.2:c.509+498_509+499insTTTTTT NP_001341233.1:n.509+498_509+499insTTTTTT
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