Canonical Allele Identifier: CA2059456687
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865976_102865977delinsTC , CM000674.2:g.102865976_102865977delinsTC GRCh38
NC_000012.11:g.103259754_103259755delinsTC , CM000674.1:g.103259754_103259755delinsTC GRCh37
NC_000012.10:g.101783884_101783885delinsTC NCBI36
NG_008690.1:g.56626_56627delinsGA
NG_008690.2:g.97434_97435delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+619_509+620delinsGA MANE Select ENSP00000448059.1:n.509+619_509+620delinsGA
ENST00000307000.7:c.494+619_494+620delinsGA ENSP00000303500.2:n.494+619_494+620delinsGA
ENST00000549111.5:n.605+619_605+620delinsGA
ENST00000551988.5:n.531-10645_531-10644delinsGA
ENST00000553106.5:c.509+619_509+620delinsGA ENSP00000448059.1:n.509+619_509+620delinsGA
NM_000277.1:c.509+619_509+620delinsGA NP_000268.1:n.509+619_509+620delinsGA
XM_011538422.1:c.509+619_509+620delinsGA XP_011536724.1:n.509+619_509+620delinsGA
NM_000277.2:c.509+619_509+620delinsGA NP_000268.1:n.509+619_509+620delinsGA
NM_001354304.1:c.509+619_509+620delinsGA NP_001341233.1:n.509+619_509+620delinsGA
XM_017019370.2:c.509+619_509+620delinsGA XP_016874859.1:n.509+619_509+620delinsGA
NM_000277.3:c.509+619_509+620delinsGA MANE Select NP_000268.1:n.509+619_509+620delinsGA
NM_001354304.2:c.509+619_509+620delinsGA NP_001341233.1:n.509+619_509+620delinsGA
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