Canonical Allele Identifier: CA2695217221

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840495_102840499del , CM000674.2:g.102840495_102840499del	GRCh38
NC_000012.11:g.103234273_103234277del , CM000674.1:g.103234273_103234277del	GRCh37
NC_000012.10:g.101758403_101758407del	NCBI36
NG_008690.1:g.82104_82108del
NG_008690.2:g.122912_122916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1216_1220del MANE Select	ENSP00000448059.1:p.Ile406SerfsTer15
ENST00000307000.7:c.1201_1205del	ENSP00000303500.2:p.Ile401SerfsTer15
ENST00000551114.2:n.878_882del
ENST00000553106.5:c.1216_1220del	ENSP00000448059.1:p.Ile406SerfsTer15
ENST00000635477.1:c.320_324del
ENST00000635528.1:n.731_735del
NM_000277.1:c.1216_1220del	NP_000268.1:p.Ile406SerfsTer15
XM_011538422.1:c.1159_1163del	XP_011536724.1:p.Ile387SerfsTer15
NM_000277.2:c.1216_1220del	NP_000268.1:p.Ile406SerfsTer15
NM_001354304.1:c.1216_1220del	NP_001341233.1:p.Ile406SerfsTer15
NM_000277.3:c.1216_1220del MANE Select	NP_000268.1:p.Ile406SerfsTer15
NM_001354304.2:c.1216_1220del	NP_001341233.1:p.Ile406SerfsTer15