Canonical Allele Identifier: CA2059450792
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846355_102846357delinsGAT , CM000674.2:g.102846355_102846357delinsGAT GRCh38
NC_000012.11:g.103240133_103240135delinsGAT , CM000674.1:g.103240133_103240135delinsGAT GRCh37
NC_000012.10:g.101764263_101764265delinsGAT NCBI36
NG_008690.1:g.76246_76248delinsATC
NG_008690.2:g.117054_117056delinsATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+538_969+540delinsATC MANE Select ENSP00000448059.1:n.969+538_969+540delinsATC
ENST00000307000.7:c.954+538_954+540delinsATC ENSP00000303500.2:n.954+538_954+540delinsATC
ENST00000549247.6:n.728+538_728+540delinsATC
ENST00000551114.2:n.631+538_631+540delinsATC
ENST00000553106.5:c.969+538_969+540delinsATC ENSP00000448059.1:n.969+538_969+540delinsATC
ENST00000635477.1:c.74-1926_74-1924delinsATC
ENST00000635528.1:n.484+538_484+540delinsATC
NM_000277.1:c.969+538_969+540delinsATC NP_000268.1:n.969+538_969+540delinsATC
XM_011538422.1:c.913-1926_913-1924delinsATC XP_011536724.1:n.913-1926_913-1924delinsATC
NM_000277.2:c.969+538_969+540delinsATC NP_000268.1:n.969+538_969+540delinsATC
NM_001354304.1:c.969+538_969+540delinsATC NP_001341233.1:n.969+538_969+540delinsATC
NM_000277.3:c.969+538_969+540delinsATC MANE Select NP_000268.1:n.969+538_969+540delinsATC
NM_001354304.2:c.969+538_969+540delinsATC NP_001341233.1:n.969+538_969+540delinsATC
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