Canonical Allele Identifier: CA951246676
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1876609801
gnomAD v3: 12-102877334-TAGGAAC-T
gnomAD v4: 12-102877334-TAGGAAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877336_102877341del , CM000674.2:g.102877336_102877341del GRCh38
NC_000012.11:g.103271114_103271119del , CM000674.1:g.103271114_103271119del GRCh37
NC_000012.10:g.101795244_101795249del NCBI36
NG_008690.1:g.45263_45268del
NG_008690.2:g.86071_86076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+122_441+127del MANE Select ENSP00000448059.1:n.441+122_441+127del
ENST00000307000.7:c.426+122_426+127del ENSP00000303500.2:n.426+122_426+127del
ENST00000549111.5:n.537+122_537+127del
ENST00000550978.6:c.547_552del
ENST00000551988.5:n.530+122_530+127del
ENST00000553106.5:c.441+122_441+127del ENSP00000448059.1:n.441+122_441+127del
NM_000277.1:c.441+122_441+127del NP_000268.1:n.441+122_441+127del
XM_011538422.1:c.441+122_441+127del XP_011536724.1:n.441+122_441+127del
NM_000277.2:c.441+122_441+127del NP_000268.1:n.441+122_441+127del
NM_001354304.1:c.441+122_441+127del NP_001341233.1:n.441+122_441+127del
XM_017019370.2:c.441+122_441+127del XP_016874859.1:n.441+122_441+127del
NM_000277.3:c.441+122_441+127del MANE Select NP_000268.1:n.441+122_441+127del
NM_001354304.2:c.441+122_441+127del NP_001341233.1:n.441+122_441+127del
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