Canonical Allele Identifier: CA2059449122

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855155_102855165delinsGTCTTCCAGCT , CM000674.2:g.102855155_102855165delinsGTCTTCCAGCT	GRCh38
NC_000012.11:g.103248933_103248943delinsGTCTTCCAGCT , CM000674.1:g.103248933_103248943delinsGTCTTCCAGCT	GRCh37
NC_000012.10:g.101773063_101773073delinsGTCTTCCAGCT	NCBI36
NG_008690.1:g.67438_67448delinsAGCTGGAAGAC
NG_008690.2:g.108246_108256delinsAGCTGGAAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.677_687delinsAGCTGGAAGAC MANE Select	ENSP00000448059.1:p.Gln226=
ENST00000307000.7:c.662_672delinsAGCTGGAAGAC	ENSP00000303500.2:p.Gln221=
ENST00000549111.5:n.773_783delinsAGCTGGAAGAC
ENST00000553106.5:c.677_687delinsAGCTGGAAGAC	ENSP00000448059.1:p.Gln226=
NM_000277.1:c.677_687delinsAGCTGGAAGAC	NP_000268.1:p.Gln226=
XM_011538422.1:c.677_687delinsAGCTGGAAGAC	XP_011536724.1:p.Gln226=
NM_000277.2:c.677_687delinsAGCTGGAAGAC	NP_000268.1:p.Gln226=
NM_001354304.1:c.677_687delinsAGCTGGAAGAC	NP_001341233.1:p.Gln226=
XM_017019370.2:c.677_687delinsAGCTGGAAGAC	XP_016874859.1:p.Gln226=
NM_000277.3:c.677_687delinsAGCTGGAAGAC MANE Select	NP_000268.1:p.Gln226=
NM_001354304.2:c.677_687delinsAGCTGGAAGAC	NP_001341233.1:p.Gln226=