Canonical Allele Identifier: CA2797243645
Community Standard Title: NM_000277.3(PAH):c.706+355del
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854781del , CM000674.2:g.102854781del GRCh38
NC_000012.11:g.103248559del , CM000674.1:g.103248559del GRCh37
NC_000012.10:g.101772689del NCBI36
NG_008690.1:g.67822del
NG_008690.2:g.108630del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+355del MANE Select NP_000268.1:n.706+355del
ENST00000553106.6:c.706+355del MANE Select ENSP00000448059.1:n.706+355del
NM_000277.1:c.706+355del NP_000268.1:n.706+355del
NM_000277.2:c.706+355del NP_000268.1:n.706+355del
NM_001354304.1:c.706+355del NP_001341233.1:n.706+355del
NM_001354304.2:c.706+355del NP_001341233.1:n.706+355del
ENST00000307000.7:c.691+355del ENSP00000303500.2:n.691+355del
ENST00000549111.5:n.1157del
ENST00000553106.5:c.706+355del ENSP00000448059.1:n.706+355del
XM_011538422.1:c.706+355del XP_011536724.1:n.706+355del
XM_017019370.2:c.*4del XP_016874859.1:n.*4del
Search 100 bp 5'
Search 100 bp 3'