Canonical Allele Identifier: CA2059446038
Community Standard Title: NM_000277.3(PAH):c.1199+165_1199+167delinsGTT
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843479_102843481delinsAAC , CM000674.2:g.102843479_102843481delinsAAC GRCh38
NC_000012.11:g.103237257_103237259delinsAAC , CM000674.1:g.103237257_103237259delinsAAC GRCh37
NC_000012.10:g.101761387_101761389delinsAAC NCBI36
NG_008690.1:g.79122_79124delinsGTT
NG_008690.2:g.119930_119932delinsGTT

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1199+165_1199+167delinsGTT MANE Select NP_000268.1:n.1199+165_1199+167delinsGTT
ENST00000553106.6:c.1199+165_1199+167delinsGTT MANE Select ENSP00000448059.1:n.1199+165_1199+167delinsGTT
NM_000277.1:c.1199+165_1199+167delinsGTT NP_000268.1:n.1199+165_1199+167delinsGTT
NM_000277.2:c.1199+165_1199+167delinsGTT NP_000268.1:n.1199+165_1199+167delinsGTT
NM_001354304.1:c.1199+165_1199+167delinsGTT NP_001341233.1:n.1199+165_1199+167delinsGTT
NM_001354304.2:c.1199+165_1199+167delinsGTT NP_001341233.1:n.1199+165_1199+167delinsGTT
ENST00000307000.7:c.1184+165_1184+167delinsGTT ENSP00000303500.2:n.1184+165_1184+167delinsGTT
ENST00000549247.6:n.958+165_958+167delinsGTT
ENST00000551114.2:n.861+165_861+167delinsGTT
ENST00000553106.5:c.1199+165_1199+167delinsGTT ENSP00000448059.1:n.1199+165_1199+167delinsGTT
ENST00000635477.1:c.303+165_303+167delinsGTT
ENST00000635528.1:n.714+165_714+167delinsGTT
XM_011538422.1:c.1142+165_1142+167delinsGTT XP_011536724.1:n.1142+165_1142+167delinsGTT
Search 100 bp 5'
Search 100 bp 3'