Canonical Allele Identifier: CA2059443577
Community Standard Title: NM_000277.3(PAH):c.912+572_912+573delinsTC
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851114_102851115delinsGA , CM000674.2:g.102851114_102851115delinsGA GRCh38
NC_000012.11:g.103244892_103244893delinsGA , CM000674.1:g.103244892_103244893delinsGA GRCh37
NC_000012.10:g.101769022_101769023delinsGA NCBI36
NG_008690.1:g.71488_71489delinsTC
NG_008690.2:g.112296_112297delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+572_912+573delinsTC MANE Select NP_000268.1:n.912+572_912+573delinsTC
ENST00000553106.6:c.912+572_912+573delinsTC MANE Select ENSP00000448059.1:n.912+572_912+573delinsTC
NM_000277.1:c.912+572_912+573delinsTC NP_000268.1:n.912+572_912+573delinsTC
NM_000277.2:c.912+572_912+573delinsTC NP_000268.1:n.912+572_912+573delinsTC
NM_001354304.1:c.912+572_912+573delinsTC NP_001341233.1:n.912+572_912+573delinsTC
NM_001354304.2:c.912+572_912+573delinsTC NP_001341233.1:n.912+572_912+573delinsTC
ENST00000307000.7:c.897+572_897+573delinsTC ENSP00000303500.2:n.897+572_897+573delinsTC
ENST00000549247.6:n.671+572_671+573delinsTC
ENST00000551114.2:n.574+572_574+573delinsTC
ENST00000553106.5:c.912+572_912+573delinsTC ENSP00000448059.1:n.912+572_912+573delinsTC
ENST00000635477.1:c.73+572_73+573delinsTC
XM_011538422.1:c.912+572_912+573delinsTC XP_011536724.1:n.912+572_912+573delinsTC
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