Canonical Allele Identifier: CA2620507849
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102843894-TCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843897_102843898del , CM000674.2:g.102843897_102843898del GRCh38
NC_000012.11:g.103237675_103237676del , CM000674.1:g.103237675_103237676del GRCh37
NC_000012.10:g.101761805_101761806del NCBI36
NG_008690.1:g.78707_78708del
NG_008690.2:g.119515_119516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1066-117_1066-116del MANE Select ENSP00000448059.1:n.1066-117_1066-116del
ENST00000307000.7:c.1051-117_1051-116del ENSP00000303500.2:n.1051-117_1051-116del
ENST00000549247.6:n.825-117_825-116del
ENST00000551114.2:n.728-117_728-116del
ENST00000553106.5:c.1066-117_1066-116del ENSP00000448059.1:n.1066-117_1066-116del
ENST00000635477.1:c.170-117_170-116del
ENST00000635528.1:n.581-117_581-116del
NM_000277.1:c.1066-117_1066-116del NP_000268.1:n.1066-117_1066-116del
XM_011538422.1:c.1009-117_1009-116del XP_011536724.1:n.1009-117_1009-116del
NM_000277.2:c.1066-117_1066-116del NP_000268.1:n.1066-117_1066-116del
NM_001354304.1:c.1066-117_1066-116del NP_001341233.1:n.1066-117_1066-116del
NM_000277.3:c.1066-117_1066-116del MANE Select NP_000268.1:n.1066-117_1066-116del
NM_001354304.2:c.1066-117_1066-116del NP_001341233.1:n.1066-117_1066-116del
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