Canonical Allele Identifier: CA2575266919
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855398del , CM000674.2:g.102855398del GRCh38
NC_000012.11:g.103249176del , CM000674.1:g.103249176del GRCh37
NC_000012.10:g.101773306del NCBI36
NG_008690.1:g.67206del
NG_008690.2:g.108014del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-65del MANE Select ENSP00000448059.1:n.510-65del
ENST00000307000.7:c.495-65del ENSP00000303500.2:n.495-65del
ENST00000549111.5:n.606-65del
ENST00000551988.5:n.531-65del
ENST00000553106.5:c.510-65del ENSP00000448059.1:n.510-65del
NM_000277.1:c.510-65del NP_000268.1:n.510-65del
XM_011538422.1:c.510-65del XP_011536724.1:n.510-65del
NM_000277.2:c.510-65del NP_000268.1:n.510-65del
NM_001354304.1:c.510-65del NP_001341233.1:n.510-65del
XM_017019370.2:c.510-65del XP_016874859.1:n.510-65del
NM_000277.3:c.510-65del MANE Select NP_000268.1:n.510-65del
NM_001354304.2:c.510-65del NP_001341233.1:n.510-65del
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