Canonical Allele Identifier: CA2620507191
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102877403-AGGGAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877409_102877413del , CM000674.2:g.102877409_102877413del GRCh38
NC_000012.11:g.103271187_103271191del , CM000674.1:g.103271187_103271191del GRCh37
NC_000012.10:g.101795317_101795321del NCBI36
NG_008690.1:g.45195_45199del
NG_008690.2:g.86003_86007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+54_441+58del MANE Select ENSP00000448059.1:n.441+54_441+58del
ENST00000307000.7:c.426+54_426+58del ENSP00000303500.2:n.426+54_426+58del
ENST00000549111.5:n.537+54_537+58del
ENST00000550978.6:c.479_483del
ENST00000551988.5:n.530+54_530+58del
ENST00000553106.5:c.441+54_441+58del ENSP00000448059.1:n.441+54_441+58del
NM_000277.1:c.441+54_441+58del NP_000268.1:n.441+54_441+58del
XM_011538422.1:c.441+54_441+58del XP_011536724.1:n.441+54_441+58del
NM_000277.2:c.441+54_441+58del NP_000268.1:n.441+54_441+58del
NM_001354304.1:c.441+54_441+58del NP_001341233.1:n.441+54_441+58del
XM_017019370.2:c.441+54_441+58del XP_016874859.1:n.441+54_441+58del
NM_000277.3:c.441+54_441+58del MANE Select NP_000268.1:n.441+54_441+58del
NM_001354304.2:c.441+54_441+58del NP_001341233.1:n.441+54_441+58del
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