Canonical Allele Identifier: CA3197749635
Community Standard Title: NM_000277.3(PAH):c.912+579_912+580del
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851108_102851109del , CM000674.2:g.102851108_102851109del GRCh38
NC_000012.11:g.103244886_103244887del , CM000674.1:g.103244886_103244887del GRCh37
NC_000012.10:g.101769016_101769017del NCBI36
NG_008690.1:g.71495_71496del
NG_008690.2:g.112303_112304del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+579_912+580del MANE Select NP_000268.1:n.912+579_912+580del
ENST00000553106.6:c.912+579_912+580del MANE Select ENSP00000448059.1:n.912+579_912+580del
NM_000277.1:c.912+579_912+580del NP_000268.1:n.912+579_912+580del
NM_000277.2:c.912+579_912+580del NP_000268.1:n.912+579_912+580del
NM_001354304.1:c.912+579_912+580del NP_001341233.1:n.912+579_912+580del
NM_001354304.2:c.912+579_912+580del NP_001341233.1:n.912+579_912+580del
ENST00000307000.7:c.897+579_897+580del ENSP00000303500.2:n.897+579_897+580del
ENST00000549247.6:n.671+579_671+580del
ENST00000551114.2:n.574+579_574+580del
ENST00000553106.5:c.912+579_912+580del ENSP00000448059.1:n.912+579_912+580del
ENST00000635477.1:c.73+579_73+580del
XM_011538422.1:c.912+579_912+580del XP_011536724.1:n.912+579_912+580del
Search 100 bp 5'
Search 100 bp 3'