Canonical Allele Identifier: CA2059456550
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865643_102865654delinsATCCTGCTCAGC , CM000674.2:g.102865643_102865654delinsATCCTGCTCAGC GRCh38
NC_000012.11:g.103259421_103259432delinsATCCTGCTCAGC , CM000674.1:g.103259421_103259432delinsATCCTGCTCAGC GRCh37
NC_000012.10:g.101783551_101783562delinsATCCTGCTCAGC NCBI36
NG_008690.1:g.56949_56960delinsGCTGAGCAGGAT
NG_008690.2:g.97757_97768delinsGCTGAGCAGGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+942_509+953delinsGCTGAGCAGGAT MANE Select ENSP00000448059.1:n.509+942_509+953delinsGCTGAGCAGGAT
ENST00000307000.7:c.494+942_494+953delinsGCTGAGCAGGAT ENSP00000303500.2:n.494+942_494+953delinsGCTGAGCAGGAT
ENST00000549111.5:n.605+942_605+953delinsGCTGAGCAGGAT
ENST00000551988.5:n.531-10322_531-10311delinsGCTGAGCAGGAT
ENST00000553106.5:c.509+942_509+953delinsGCTGAGCAGGAT ENSP00000448059.1:n.509+942_509+953delinsGCTGAGCAGGAT
NM_000277.1:c.509+942_509+953delinsGCTGAGCAGGAT NP_000268.1:n.509+942_509+953delinsGCTGAGCAGGAT
XM_011538422.1:c.509+942_509+953delinsGCTGAGCAGGAT XP_011536724.1:n.509+942_509+953delinsGCTGAGCAGGAT
NM_000277.2:c.509+942_509+953delinsGCTGAGCAGGAT NP_000268.1:n.509+942_509+953delinsGCTGAGCAGGAT
NM_001354304.1:c.509+942_509+953delinsGCTGAGCAGGAT NP_001341233.1:n.509+942_509+953delinsGCTGAGCAGGAT
XM_017019370.2:c.509+942_509+953delinsGCTGAGCAGGAT XP_016874859.1:n.509+942_509+953delinsGCTGAGCAGGAT
NM_000277.3:c.509+942_509+953delinsGCTGAGCAGGAT MANE Select NP_000268.1:n.509+942_509+953delinsGCTGAGCAGGAT
NM_001354304.2:c.509+942_509+953delinsGCTGAGCAGGAT NP_001341233.1:n.509+942_509+953delinsGCTGAGCAGGAT
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