Canonical Allele Identifier: CA2059473218

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912783_102912785delinsGCA , CM000674.2:g.102912783_102912785delinsGCA	GRCh38
NC_000012.11:g.103306561_103306563delinsGCA , CM000674.1:g.103306561_103306563delinsGCA	GRCh37
NC_000012.10:g.101830691_101830693delinsGCA	NCBI36
NG_008690.1:g.9818_9820delinsTGC
NG_008690.2:g.50626_50628delinsTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.168+6_168+8delinsTGC MANE Select	ENSP00000448059.1:n.168+6_168+8delinsTGC
ENST00000307000.7:c.153+6_153+8delinsTGC	ENSP00000303500.2:n.153+6_153+8delinsTGC
ENST00000546844.1:c.168+6_168+8delinsTGC	ENSP00000446658.1:n.168+6_168+8delinsTGC
ENST00000548677.2:n.255+6_255+8delinsTGC
ENST00000548928.1:n.90+6_90+8delinsTGC
ENST00000549111.5:n.264+6_264+8delinsTGC
ENST00000550978.6:c.152+6_152+8delinsTGC
ENST00000551337.5:c.168+6_168+8delinsTGC	ENSP00000447620.1:n.168+6_168+8delinsTGC
ENST00000551988.5:n.257+6_257+8delinsTGC
ENST00000553106.5:c.168+6_168+8delinsTGC	ENSP00000448059.1:n.168+6_168+8delinsTGC
ENST00000635500.1:n.136+6_136+8delinsTGC
NM_000277.1:c.168+6_168+8delinsTGC	NP_000268.1:n.168+6_168+8delinsTGC
XM_011538422.1:c.168+6_168+8delinsTGC	XP_011536724.1:n.168+6_168+8delinsTGC
NM_000277.2:c.168+6_168+8delinsTGC	NP_000268.1:n.168+6_168+8delinsTGC
NM_001354304.1:c.168+6_168+8delinsTGC	NP_001341233.1:n.168+6_168+8delinsTGC
XM_017019370.2:c.168+6_168+8delinsTGC	XP_016874859.1:n.168+6_168+8delinsTGC
NM_000277.3:c.168+6_168+8delinsTGC MANE Select	NP_000268.1:n.168+6_168+8delinsTGC
NM_001354304.2:c.168+6_168+8delinsTGC	NP_001341233.1:n.168+6_168+8delinsTGC