Canonical Allele Identifier: CA2059443395
Community Standard Title: NM_000277.3(PAH):c.912+624_912+625delinsAG
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851062_102851063delinsCT , CM000674.2:g.102851062_102851063delinsCT GRCh38
NC_000012.11:g.103244840_103244841delinsCT , CM000674.1:g.103244840_103244841delinsCT GRCh37
NC_000012.10:g.101768970_101768971delinsCT NCBI36
NG_008690.1:g.71540_71541delinsAG
NG_008690.2:g.112348_112349delinsAG

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+624_912+625delinsAG MANE Select NP_000268.1:n.912+624_912+625delinsAG
ENST00000553106.6:c.912+624_912+625delinsAG MANE Select ENSP00000448059.1:n.912+624_912+625delinsAG
NM_000277.1:c.912+624_912+625delinsAG NP_000268.1:n.912+624_912+625delinsAG
NM_000277.2:c.912+624_912+625delinsAG NP_000268.1:n.912+624_912+625delinsAG
NM_001354304.1:c.912+624_912+625delinsAG NP_001341233.1:n.912+624_912+625delinsAG
NM_001354304.2:c.912+624_912+625delinsAG NP_001341233.1:n.912+624_912+625delinsAG
ENST00000307000.7:c.897+624_897+625delinsAG ENSP00000303500.2:n.897+624_897+625delinsAG
ENST00000549247.6:n.671+624_671+625delinsAG
ENST00000551114.2:n.574+624_574+625delinsAG
ENST00000553106.5:c.912+624_912+625delinsAG ENSP00000448059.1:n.912+624_912+625delinsAG
ENST00000635477.1:c.73+624_73+625delinsAG
XM_011538422.1:c.912+624_912+625delinsAG XP_011536724.1:n.912+624_912+625delinsAG
Search 100 bp 5'
Search 100 bp 3'