Canonical Allele Identifier: CA2569380440
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917270_102917271insGA , CM000674.2:g.102917270_102917271insGA GRCh38
NC_000012.11:g.103311048_103311049insGA , CM000674.1:g.103311048_103311049insGA GRCh37
NC_000012.10:g.101835178_101835179insGA NCBI36
NG_008690.1:g.5332_5333insTC
NG_008690.2:g.46140_46141insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-46_493-45insTC
ENST00000546844.1:c.-95-46_-95-45insTC ENSP00000446658.1:n.-95-46_-95-45insTC
ENST00000547319.1:n.217-46_217-45insTC
ENST00000551337.5:c.-95-46_-95-45insTC ENSP00000447620.1:n.-95-46_-95-45insTC
ENST00000553106.5:c.-141_-140insTC ENSP00000448059.1:n.-141_-140insTC
ENST00000635500.1:n.29-4373_29-4372insTC
NM_000277.1:c.-141_-140insTC NP_000268.1:n.-141_-140insTC
NM_000277.2:c.-141_-140insTC NP_000268.1:n.-141_-140insTC
NM_001354304.1:c.-95-46_-95-45insTC NP_001341233.1:n.-95-46_-95-45insTC
NM_001354304.2:c.-95-46_-95-45insTC NP_001341233.1:n.-95-46_-95-45insTC
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