Canonical Allele Identifier: CA2059451616

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102847036_102847037delinsTG , CM000674.2:g.102847036_102847037delinsTG	GRCh38
NC_000012.11:g.103240814_103240815delinsTG , CM000674.1:g.103240814_103240815delinsTG	GRCh37
NC_000012.10:g.101764944_101764945delinsTG	NCBI36
NG_008690.1:g.75566_75567delinsCA
NG_008690.2:g.116374_116375delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.913-86_913-85delinsCA MANE Select	ENSP00000448059.1:n.913-86_913-85delinsCA
ENST00000307000.7:c.898-86_898-85delinsCA	ENSP00000303500.2:n.898-86_898-85delinsCA
ENST00000549247.6:n.672-86_672-85delinsCA
ENST00000551114.2:n.575-86_575-85delinsCA
ENST00000553106.5:c.913-86_913-85delinsCA	ENSP00000448059.1:n.913-86_913-85delinsCA
ENST00000635477.1:c.74-2606_74-2605delinsCA
ENST00000635528.1:n.342_343delinsCA
NM_000277.1:c.913-86_913-85delinsCA	NP_000268.1:n.913-86_913-85delinsCA
XM_011538422.1:c.913-2606_913-2605delinsCA	XP_011536724.1:n.913-2606_913-2605delinsCA
NM_000277.2:c.913-86_913-85delinsCA	NP_000268.1:n.913-86_913-85delinsCA
NM_001354304.1:c.913-86_913-85delinsCA	NP_001341233.1:n.913-86_913-85delinsCA
NM_000277.3:c.913-86_913-85delinsCA MANE Select	NP_000268.1:n.913-86_913-85delinsCA
NM_001354304.2:c.913-86_913-85delinsCA	NP_001341233.1:n.913-86_913-85delinsCA