Canonical Allele Identifier: CA607154925
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1014030234
gnomAD v2: 12-103248607-CAAAAA-C
gnomAD v3: 12-102854829-CAAAAA-C
gnomAD v4: 12-102854829-CAAAAA-C
MyVariant Identifiers: chr12:g.103248608_103248612del (hg19) chr12:g.102854830_102854834del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854834_102854838del , CM000674.2:g.102854834_102854838del GRCh38
NC_000012.11:g.103248612_103248616del , CM000674.1:g.103248612_103248616del GRCh37
NC_000012.10:g.101772742_101772746del NCBI36
NG_008690.1:g.67769_67773del
NG_008690.2:g.108577_108581del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+302_706+306del MANE Select ENSP00000448059.1:n.706+302_706+306del
ENST00000307000.7:c.691+302_691+306del ENSP00000303500.2:n.691+302_691+306del
ENST00000549111.5:n.1104_1108del
ENST00000553106.5:c.706+302_706+306del ENSP00000448059.1:n.706+302_706+306del
NM_000277.1:c.706+302_706+306del NP_000268.1:n.706+302_706+306del
XM_011538422.1:c.706+302_706+306del XP_011536724.1:n.706+302_706+306del
NM_000277.2:c.706+302_706+306del NP_000268.1:n.706+302_706+306del
NM_001354304.1:c.706+302_706+306del NP_001341233.1:n.706+302_706+306del
XM_017019370.2:c.707-33_707-29del XP_016874859.1:n.707-33_707-29del
NM_000277.3:c.706+302_706+306del MANE Select NP_000268.1:n.706+302_706+306del
NM_001354304.2:c.706+302_706+306del NP_001341233.1:n.706+302_706+306del
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