Canonical Allele Identifier: CA3038904325
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854823_102854824insAAAAACAAAA , CM000674.2:g.102854823_102854824insAAAAACAAAA GRCh38
NC_000012.11:g.103248601_103248602insAAAAACAAAA , CM000674.1:g.103248601_103248602insAAAAACAAAA GRCh37
NC_000012.10:g.101772731_101772732insAAAAACAAAA NCBI36
NG_008690.1:g.67788_67789insTTTTTGTTTT
NG_008690.2:g.108596_108597insTTTTTGTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+321_706+322insTTTTTGTTTT MANE Select ENSP00000448059.1:n.706+321_706+322insTTTTTGTTTT
ENST00000307000.7:c.691+321_691+322insTTTTTGTTTT ENSP00000303500.2:n.691+321_691+322insTTTTTGTTTT
ENST00000549111.5:n.1123_1124insTTTTTGTTTT
ENST00000553106.5:c.706+321_706+322insTTTTTGTTTT ENSP00000448059.1:n.706+321_706+322insTTTTTGTTTT
NM_000277.1:c.706+321_706+322insTTTTTGTTTT NP_000268.1:n.706+321_706+322insTTTTTGTTTT
XM_011538422.1:c.706+321_706+322insTTTTTGTTTT XP_011536724.1:n.706+321_706+322insTTTTTGTTTT
NM_000277.2:c.706+321_706+322insTTTTTGTTTT NP_000268.1:n.706+321_706+322insTTTTTGTTTT
NM_001354304.1:c.706+321_706+322insTTTTTGTTTT NP_001341233.1:n.706+321_706+322insTTTTTGTTTT
XM_017019370.2:c.707-14_707-13insTTTTTGTTTT XP_016874859.1:n.707-14_707-13insTTTTTGTTTT
NM_000277.3:c.706+321_706+322insTTTTTGTTTT MANE Select NP_000268.1:n.706+321_706+322insTTTTTGTTTT
NM_001354304.2:c.706+321_706+322insTTTTTGTTTT NP_001341233.1:n.706+321_706+322insTTTTTGTTTT
Search 100 bp 5'
Search 100 bp 3'