Canonical Allele Identifier: CA645372269

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912849_102912850delinsTA , CM000674.2:g.102912849_102912850delinsTA	GRCh38
NC_000012.11:g.103306627_103306628delinsTA , CM000674.1:g.103306627_103306628delinsTA	GRCh37
NC_000012.10:g.101830757_101830758delinsTA	NCBI36
NG_008690.1:g.9753_9754delinsTA
NG_008690.2:g.50561_50562delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.109_110delinsTA MANE Select	ENSP00000448059.1:p.Leu37Ter
ENST00000307000.7:c.94_95delinsTA	ENSP00000303500.2:p.Leu32Ter
ENST00000546844.1:c.109_110delinsTA	ENSP00000446658.1:p.Leu37Ter
ENST00000548677.2:n.196_197delinsTA
ENST00000548928.1:n.31_32delinsTA
ENST00000549111.5:n.205_206delinsTA
ENST00000550978.6:c.93_94delinsTA
ENST00000551337.5:c.109_110delinsTA	ENSP00000447620.1:p.Leu37Ter
ENST00000551988.5:n.198_199delinsTA
ENST00000553106.5:c.109_110delinsTA	ENSP00000448059.1:p.Leu37Ter
ENST00000635500.1:n.77_78delinsTA
NM_000277.1:c.109_110delinsTA	NP_000268.1:p.Leu37Ter
XM_011538422.1:c.109_110delinsTA	XP_011536724.1:p.Leu37Ter
NM_000277.2:c.109_110delinsTA	NP_000268.1:p.Leu37Ter
NM_001354304.1:c.109_110delinsTA	NP_001341233.1:p.Leu37Ter
XM_017019370.2:c.109_110delinsTA	XP_016874859.1:p.Leu37Ter
NM_000277.3:c.109_110delinsTA MANE Select	NP_000268.1:p.Leu37Ter
NM_001354304.2:c.109_110delinsTA	NP_001341233.1:p.Leu37Ter