Canonical Allele Identifier: CA2059473097

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912669_102912670delinsCT , CM000674.2:g.102912669_102912670delinsCT	GRCh38
NC_000012.11:g.103306447_103306448delinsCT , CM000674.1:g.103306447_103306448delinsCT	GRCh37
NC_000012.10:g.101830577_101830578delinsCT	NCBI36
NG_008690.1:g.9933_9934delinsAG
NG_008690.2:g.50741_50742delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.168+121_168+122delinsAG MANE Select	ENSP00000448059.1:n.168+121_168+122delinsAG
ENST00000307000.7:c.153+121_153+122delinsAG	ENSP00000303500.2:n.153+121_153+122delinsAG
ENST00000546844.1:c.168+121_168+122delinsAG	ENSP00000446658.1:n.168+121_168+122delinsAG
ENST00000548677.2:n.255+121_255+122delinsAG
ENST00000548928.1:n.90+121_90+122delinsAG
ENST00000549111.5:n.264+121_264+122delinsAG
ENST00000550978.6:c.152+121_152+122delinsAG
ENST00000551337.5:c.168+121_168+122delinsAG	ENSP00000447620.1:n.168+121_168+122delinsAG
ENST00000551988.5:n.257+121_257+122delinsAG
ENST00000553106.5:c.168+121_168+122delinsAG	ENSP00000448059.1:n.168+121_168+122delinsAG
ENST00000635500.1:n.136+121_136+122delinsAG
NM_000277.1:c.168+121_168+122delinsAG	NP_000268.1:n.168+121_168+122delinsAG
XM_011538422.1:c.168+121_168+122delinsAG	XP_011536724.1:n.168+121_168+122delinsAG
NM_000277.2:c.168+121_168+122delinsAG	NP_000268.1:n.168+121_168+122delinsAG
NM_001354304.1:c.168+121_168+122delinsAG	NP_001341233.1:n.168+121_168+122delinsAG
XM_017019370.2:c.168+121_168+122delinsAG	XP_016874859.1:n.168+121_168+122delinsAG
NM_000277.3:c.168+121_168+122delinsAG MANE Select	NP_000268.1:n.168+121_168+122delinsAG
NM_001354304.2:c.168+121_168+122delinsAG	NP_001341233.1:n.168+121_168+122delinsAG