Canonical Allele Identifier: CA2059456965

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866590_102866591delinsAC , CM000674.2:g.102866590_102866591delinsAC	GRCh38
NC_000012.11:g.103260368_103260369delinsAC , CM000674.1:g.103260368_103260369delinsAC	GRCh37
NC_000012.10:g.101784498_101784499delinsAC	NCBI36
NG_008690.1:g.56012_56013delinsGT
NG_008690.2:g.96820_96821delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.509+5_509+6delinsGT MANE Select	ENSP00000448059.1:n.509+5_509+6delinsGT
ENST00000307000.7:c.494+5_494+6delinsGT	ENSP00000303500.2:n.494+5_494+6delinsGT
ENST00000549111.5:n.605+5_605+6delinsGT
ENST00000551988.5:n.530+10871_530+10872delinsGT
ENST00000553106.5:c.509+5_509+6delinsGT	ENSP00000448059.1:n.509+5_509+6delinsGT
NM_000277.1:c.509+5_509+6delinsGT	NP_000268.1:n.509+5_509+6delinsGT
XM_011538422.1:c.509+5_509+6delinsGT	XP_011536724.1:n.509+5_509+6delinsGT
NM_000277.2:c.509+5_509+6delinsGT	NP_000268.1:n.509+5_509+6delinsGT
NM_001354304.1:c.509+5_509+6delinsGT	NP_001341233.1:n.509+5_509+6delinsGT
XM_017019370.2:c.509+5_509+6delinsGT	XP_016874859.1:n.509+5_509+6delinsGT
NM_000277.3:c.509+5_509+6delinsGT MANE Select	NP_000268.1:n.509+5_509+6delinsGT
NM_001354304.2:c.509+5_509+6delinsGT	NP_001341233.1:n.509+5_509+6delinsGT