Canonical Allele Identifier: CA2620525460
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854790_102854794del , CM000674.2:g.102854790_102854794del GRCh38
NC_000012.11:g.103248568_103248572del , CM000674.1:g.103248568_103248572del GRCh37
NC_000012.10:g.101772698_101772702del NCBI36
NG_008690.1:g.67810_67814del
NG_008690.2:g.108618_108622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+343_706+347del MANE Select ENSP00000448059.1:n.706+343_706+347del
ENST00000307000.7:c.691+343_691+347del ENSP00000303500.2:n.691+343_691+347del
ENST00000549111.5:n.1145_1149del
ENST00000553106.5:c.706+343_706+347del ENSP00000448059.1:n.706+343_706+347del
NM_000277.1:c.706+343_706+347del NP_000268.1:n.706+343_706+347del
XM_011538422.1:c.706+343_706+347del XP_011536724.1:n.706+343_706+347del
NM_000277.2:c.706+343_706+347del NP_000268.1:n.706+343_706+347del
NM_001354304.1:c.706+343_706+347del NP_001341233.1:n.706+343_706+347del
XM_017019370.2:c.715_719del XP_016874859.1:p.Val239MetfsTer3
NM_000277.3:c.706+343_706+347del MANE Select NP_000268.1:n.706+343_706+347del
NM_001354304.2:c.706+343_706+347del NP_001341233.1:n.706+343_706+347del
Search 100 bp 5'
Search 100 bp 3'