Canonical Allele Identifier: CA2554186782
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846953_102846954insACTCCCCTGGAAGCCAG , CM000674.2:g.102846953_102846954insACTCCCCTGGAAGCCAG GRCh38
NC_000012.11:g.103240731_103240732insACTCCCCTGGAAGCCAG , CM000674.1:g.103240731_103240732insACTCCCCTGGAAGCCAG GRCh37
NC_000012.10:g.101764861_101764862insACTCCCCTGGAAGCCAG NCBI36
NG_008690.1:g.75649_75650insCTGGCTTCCAGGGGAGT
NG_008690.2:g.116457_116458insCTGGCTTCCAGGGGAGT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.913-3_913-2insCTGGCTTCCAGGGGAGT MANE Select ENSP00000448059.1:n.913-3_913-2insCTGGCTT...
ENST00000307000.7:c.898-3_898-2insCTGGCTTCCAGGGGAGT ENSP00000303500.2:n.898-3_898-2insCTGGCTT...
ENST00000549247.6:n.672-3_672-2insCTGGCTTCCAGGGGAGT
ENST00000551114.2:n.575-3_575-2insCTGGCTTCCAGGGGAGT
ENST00000553106.5:c.913-3_913-2insCTGGCTTCCAGGGGAGT ENSP00000448059.1:n.913-3_913-2insCTGGCTT...
ENST00000635477.1:c.74-2523_74-2522insCTGGCTTCCAGGGGAGT
ENST00000635528.1:n.425_426insCTGGCTTCCAGGGGAGT
NM_000277.1:c.913-3_913-2insCTGGCTTCCAGGGGAGT NP_000268.1:n.913-3_913-2insCTGGCTTCCAGGG...
XM_011538422.1:c.913-2523_913-2522insCTGGCTTCCAGGGGAGT XP_011536724.1:n.913-2523_913-2522insCTGG...
NM_000277.2:c.913-3_913-2insCTGGCTTCCAGGGGAGT NP_000268.1:n.913-3_913-2insCTGGCTTCCAGGG...
NM_001354304.1:c.913-3_913-2insCTGGCTTCCAGGGGAGT NP_001341233.1:n.913-3_913-2insCTGGCTTCCA...
NM_000277.3:c.913-3_913-2insCTGGCTTCCAGGGGAGT MANE Select NP_000268.1:n.913-3_913-2insCTGGCTTCCAGGG...
NM_001354304.2:c.913-3_913-2insCTGGCTTCCAGGGGAGT NP_001341233.1:n.913-3_913-2insCTGGCTTCCA...
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