Canonical Allele Identifier: CA2620511045
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917290-C-CACGAGGGGCGTTA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917290_102917291insACGAGGGGCGTTA , CM000674.2:g.102917290_102917291insACGAGGGGCGTTA GRCh38
NC_000012.11:g.103311068_103311069insACGAGGGGCGTTA , CM000674.1:g.103311068_103311069insACGAGGGGCGTTA GRCh37
NC_000012.10:g.101835198_101835199insACGAGGGGCGTTA NCBI36
NG_008690.1:g.5312_5313insTAACGCCCCTCGT
NG_008690.2:g.46120_46121insTAACGCCCCTCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-66_493-65insTAACGCCCCTCGT
ENST00000546844.1:c.-95-66_-95-65insTAACGCCCCTCGT ENSP00000446658.1:n.-95-66_-95-65insTAACGCCCCTCGT
ENST00000547319.1:n.217-66_217-65insTAACGCCCCTCGT
ENST00000551337.5:c.-95-66_-95-65insTAACGCCCCTCGT ENSP00000447620.1:n.-95-66_-95-65insTAACGCCCCTCGT
ENST00000553106.5:c.-161_-160insTAACGCCCCTCGT ENSP00000448059.1:n.-161_-160insTAACGCCCCTCGT
ENST00000635500.1:n.29-4393_29-4392insTAACGCCCCTCGT
NM_000277.1:c.-161_-160insTAACGCCCCTCGT NP_000268.1:n.-161_-160insTAACGCCCCTCGT
NM_000277.2:c.-161_-160insTAACGCCCCTCGT NP_000268.1:n.-161_-160insTAACGCCCCTCGT
NM_001354304.1:c.-95-66_-95-65insTAACGCCCCTCGT NP_001341233.1:n.-95-66_-95-65insTAACGCCCCTCGT
NM_001354304.2:c.-95-66_-95-65insTAACGCCCCTCGT NP_001341233.1:n.-95-66_-95-65insTAACGCCCCTCGT
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