Canonical Allele Identifier: CA2059448536
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs530888628
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854819_102854833del , CM000674.2:g.102854819_102854833del GRCh38
NC_000012.11:g.103248597_103248611del , CM000674.1:g.103248597_103248611del GRCh37
NC_000012.10:g.101772727_101772741del NCBI36
NG_008690.1:g.67778_67792del
NG_008690.2:g.108586_108600del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+311_706+325del MANE Select ENSP00000448059.1:n.706+311_706+325del
ENST00000307000.7:c.691+311_691+325del ENSP00000303500.2:n.691+311_691+325del
ENST00000549111.5:n.1113_1127del
ENST00000553106.5:c.706+311_706+325del ENSP00000448059.1:n.706+311_706+325del
NM_000277.1:c.706+311_706+325del NP_000268.1:n.706+311_706+325del
XM_011538422.1:c.706+311_706+325del XP_011536724.1:n.706+311_706+325del
NM_000277.2:c.706+311_706+325del NP_000268.1:n.706+311_706+325del
NM_001354304.1:c.706+311_706+325del NP_001341233.1:n.706+311_706+325del
XM_017019370.2:c.707-24_707-10del XP_016874859.1:n.707-24_707-10del
NM_000277.3:c.706+311_706+325del MANE Select NP_000268.1:n.706+311_706+325del
NM_001354304.2:c.706+311_706+325del NP_001341233.1:n.706+311_706+325del
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