Canonical Allele Identifier: CA2620526868
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102855460-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855461del , CM000674.2:g.102855461del GRCh38
NC_000012.11:g.103249239del , CM000674.1:g.103249239del GRCh37
NC_000012.10:g.101773369del NCBI36
NG_008690.1:g.67142del
NG_008690.2:g.107950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-129del MANE Select ENSP00000448059.1:n.510-129del
ENST00000307000.7:c.495-129del ENSP00000303500.2:n.495-129del
ENST00000549111.5:n.606-129del
ENST00000551988.5:n.531-129del
ENST00000553106.5:c.510-129del ENSP00000448059.1:n.510-129del
NM_000277.1:c.510-129del NP_000268.1:n.510-129del
XM_011538422.1:c.510-129del XP_011536724.1:n.510-129del
NM_000277.2:c.510-129del NP_000268.1:n.510-129del
NM_001354304.1:c.510-129del NP_001341233.1:n.510-129del
XM_017019370.2:c.510-129del XP_016874859.1:n.510-129del
NM_000277.3:c.510-129del MANE Select NP_000268.1:n.510-129del
NM_001354304.2:c.510-129del NP_001341233.1:n.510-129del
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