Canonical Allele Identifier: CA2695217219

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840467_102840468delinsGT , CM000674.2:g.102840467_102840468delinsGT	GRCh38
NC_000012.11:g.103234245_103234246delinsGT , CM000674.1:g.103234245_103234246delinsGT	GRCh37
NC_000012.10:g.101758375_101758376delinsGT	NCBI36
NG_008690.1:g.82135_82136delinsAC
NG_008690.2:g.122943_122944delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1247_1248delinsAC MANE Select	ENSP00000448059.1:p.Pro416His
ENST00000307000.7:c.1232_1233delinsAC	ENSP00000303500.2:p.Pro411His
ENST00000551114.2:n.909_910delinsAC
ENST00000553106.5:c.1247_1248delinsAC	ENSP00000448059.1:p.Pro416His
ENST00000635477.1:c.351_352delinsAC
ENST00000635528.1:n.762_763delinsAC
NM_000277.1:c.1247_1248delinsAC	NP_000268.1:p.Pro416His
XM_011538422.1:c.1190_1191delinsAC	XP_011536724.1:p.Pro397His
NM_000277.2:c.1247_1248delinsAC	NP_000268.1:p.Pro416His
NM_001354304.1:c.1247_1248delinsAC	NP_001341233.1:p.Pro416His
NM_000277.3:c.1247_1248delinsAC MANE Select	NP_000268.1:p.Pro416His
NM_001354304.2:c.1247_1248delinsAC	NP_001341233.1:p.Pro416His