Canonical Allele Identifier: CA2620516144
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102853159-C-CTCGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102853159_102853160insTCGGG , CM000674.2:g.102853159_102853160insTCGGG GRCh38
NC_000012.11:g.103246937_103246938insTCGGG , CM000674.1:g.103246937_103246938insTCGGG GRCh37
NC_000012.10:g.101771067_101771068insTCGGG NCBI36
NG_008690.1:g.69443_69444insCCCGA
NG_008690.2:g.110251_110252insCCCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-210_707-209insCCCGA MANE Select ENSP00000448059.1:n.707-210_707-209insCCCGA
ENST00000307000.7:c.692-210_692-209insCCCGA ENSP00000303500.2:n.692-210_692-209insCCCGA
ENST00000549247.6:n.256_257insCCCGA
ENST00000553106.5:c.707-210_707-209insCCCGA ENSP00000448059.1:n.707-210_707-209insCCCGA
NM_000277.1:c.707-210_707-209insCCCGA NP_000268.1:n.707-210_707-209insCCCGA
XM_011538422.1:c.707-210_707-209insCCCGA XP_011536724.1:n.707-210_707-209insCCCGA
NM_000277.2:c.707-210_707-209insCCCGA NP_000268.1:n.707-210_707-209insCCCGA
NM_001354304.1:c.707-210_707-209insCCCGA NP_001341233.1:n.707-210_707-209insCCCGA
NM_000277.3:c.707-210_707-209insCCCGA MANE Select NP_000268.1:n.707-210_707-209insCCCGA
NM_001354304.2:c.707-210_707-209insCCCGA NP_001341233.1:n.707-210_707-209insCCCGA
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