Canonical Allele Identifier: CA2059456632
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865836_102865837delinsAT , CM000674.2:g.102865836_102865837delinsAT GRCh38
NC_000012.11:g.103259614_103259615delinsAT , CM000674.1:g.103259614_103259615delinsAT GRCh37
NC_000012.10:g.101783744_101783745delinsAT NCBI36
NG_008690.1:g.56766_56767delinsAT
NG_008690.2:g.97574_97575delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+759_509+760delinsAT MANE Select ENSP00000448059.1:n.509+759_509+760delinsAT
ENST00000307000.7:c.494+759_494+760delinsAT ENSP00000303500.2:n.494+759_494+760delinsAT
ENST00000549111.5:n.605+759_605+760delinsAT
ENST00000551988.5:n.531-10505_531-10504delinsAT
ENST00000553106.5:c.509+759_509+760delinsAT ENSP00000448059.1:n.509+759_509+760delinsAT
NM_000277.1:c.509+759_509+760delinsAT NP_000268.1:n.509+759_509+760delinsAT
XM_011538422.1:c.509+759_509+760delinsAT XP_011536724.1:n.509+759_509+760delinsAT
NM_000277.2:c.509+759_509+760delinsAT NP_000268.1:n.509+759_509+760delinsAT
NM_001354304.1:c.509+759_509+760delinsAT NP_001341233.1:n.509+759_509+760delinsAT
XM_017019370.2:c.509+759_509+760delinsAT XP_016874859.1:n.509+759_509+760delinsAT
NM_000277.3:c.509+759_509+760delinsAT MANE Select NP_000268.1:n.509+759_509+760delinsAT
NM_001354304.2:c.509+759_509+760delinsAT NP_001341233.1:n.509+759_509+760delinsAT
Search 100 bp 5'
Search 100 bp 3'