Canonical Allele Identifier: CA2555020848
Community Standard Title: NM_000277.3(PAH):c.912+598_912+599insTA
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851088_102851089insTA , CM000674.2:g.102851088_102851089insTA GRCh38
NC_000012.11:g.103244866_103244867insTA , CM000674.1:g.103244866_103244867insTA GRCh37
NC_000012.10:g.101768996_101768997insTA NCBI36
NG_008690.1:g.71514_71515insTA
NG_008690.2:g.112322_112323insTA

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+598_912+599insTA MANE Select NP_000268.1:n.912+598_912+599insTA
ENST00000553106.6:c.912+598_912+599insTA MANE Select ENSP00000448059.1:n.912+598_912+599insTA
NM_000277.1:c.912+598_912+599insTA NP_000268.1:n.912+598_912+599insTA
NM_000277.2:c.912+598_912+599insTA NP_000268.1:n.912+598_912+599insTA
NM_001354304.1:c.912+598_912+599insTA NP_001341233.1:n.912+598_912+599insTA
NM_001354304.2:c.912+598_912+599insTA NP_001341233.1:n.912+598_912+599insTA
ENST00000307000.7:c.897+598_897+599insTA ENSP00000303500.2:n.897+598_897+599insTA
ENST00000549247.6:n.671+598_671+599insTA
ENST00000551114.2:n.574+598_574+599insTA
ENST00000553106.5:c.912+598_912+599insTA ENSP00000448059.1:n.912+598_912+599insTA
ENST00000635477.1:c.73+598_73+599insTA
XM_011538422.1:c.912+598_912+599insTA XP_011536724.1:n.912+598_912+599insTA
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