Canonical Allele Identifier: CA951241096
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102865719-A-ATTGTAGCTGCTGGGTAAGTGGCCTCTCACCCCCT
gnomAD v4: 12-102865719-A-ATTGTAGCTGCTGGGTAAGTGGCCTCTCACCCCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865719_102865720insTTGTAGCTGCTGGGTAAGTGGCCTCTCACCCCCT , CM000674.2:g.102865719_102865720insTTGTAGCTGCTGGGTAAGTGGCCTCTCACCCCCT GRCh38
NC_000012.11:g.103259497_103259498insTTGTAGCTGCTGGGTAAGTGGCCTCTCACCCCCT , CM000674.1:g.103259497_103259498insTTGTAGCTGCTGGGTAAGTGGCCTCTCACCCCCT GRCh37
NC_000012.10:g.101783627_101783628insTTGTAGCTGCTGGGTAAGTGGCCTCTCACCCCCT NCBI36
NG_008690.1:g.56883_56884insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA
NG_008690.2:g.97691_97692insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA MANE Select ENSP00000448059.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCC...
ENST00000307000.7:c.494+876_494+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA ENSP00000303500.2:n.494+876_494+877insAGGGGGTGAGAGGCCACTTACCC...
ENST00000549111.5:n.605+876_605+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA
ENST00000551988.5:n.531-10388_531-10387insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA
ENST00000553106.5:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA ENSP00000448059.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCC...
NM_000277.1:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA NP_000268.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGC...
XM_011538422.1:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA XP_011536724.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGC...
NM_000277.2:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA NP_000268.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGC...
NM_001354304.1:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA NP_001341233.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGC...
XM_017019370.2:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA XP_016874859.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGC...
NM_000277.3:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA MANE Select NP_000268.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGC...
NM_001354304.2:c.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGCAGCTACAA NP_001341233.1:n.509+876_509+877insAGGGGGTGAGAGGCCACTTACCCAGC...
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