Canonical Allele Identifier: CA2059446057
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843490_102843491delinsGA , CM000674.2:g.102843490_102843491delinsGA GRCh38
NC_000012.11:g.103237268_103237269delinsGA , CM000674.1:g.103237268_103237269delinsGA GRCh37
NC_000012.10:g.101761398_101761399delinsGA NCBI36
NG_008690.1:g.79112_79113delinsTC
NG_008690.2:g.119920_119921delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+155_1199+156delinsTC MANE Select ENSP00000448059.1:n.1199+155_1199+156delinsTC
ENST00000307000.7:c.1184+155_1184+156delinsTC ENSP00000303500.2:n.1184+155_1184+156delinsTC
ENST00000549247.6:n.958+155_958+156delinsTC
ENST00000551114.2:n.861+155_861+156delinsTC
ENST00000553106.5:c.1199+155_1199+156delinsTC ENSP00000448059.1:n.1199+155_1199+156delinsTC
ENST00000635477.1:c.303+155_303+156delinsTC
ENST00000635528.1:n.714+155_714+156delinsTC
NM_000277.1:c.1199+155_1199+156delinsTC NP_000268.1:n.1199+155_1199+156delinsTC
XM_011538422.1:c.1142+155_1142+156delinsTC XP_011536724.1:n.1142+155_1142+156delinsTC
NM_000277.2:c.1199+155_1199+156delinsTC NP_000268.1:n.1199+155_1199+156delinsTC
NM_001354304.1:c.1199+155_1199+156delinsTC NP_001341233.1:n.1199+155_1199+156delinsTC
NM_000277.3:c.1199+155_1199+156delinsTC MANE Select NP_000268.1:n.1199+155_1199+156delinsTC
NM_001354304.2:c.1199+155_1199+156delinsTC NP_001341233.1:n.1199+155_1199+156delinsTC
Search 100 bp 5'
Search 100 bp 3'