Canonical Allele Identifier: CA16020958

Gene: PAH

Linked Data

• ClinVar Variation Id: 1810383
• ClinVar RCV Id: RCV002509870
• ERepo: CA16020958/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843667_102843668insA , CM000674.2:g.102843667_102843668insA	GRCh38
NC_000012.11:g.103237445_103237446insA , CM000674.1:g.103237445_103237446insA	GRCh37
NC_000012.10:g.101761575_101761576insA	NCBI36
NG_008690.1:g.78935_78936insT
NG_008690.2:g.119743_119744insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1177_1178insT MANE Select	ENSP00000448059.1:p.Asn393IlefsTer2
ENST00000307000.7:c.1162_1163insT	ENSP00000303500.2:p.Asn388IlefsTer2
ENST00000549247.6:n.936_937insT
ENST00000551114.2:n.839_840insT
ENST00000553106.5:c.1177_1178insT	ENSP00000448059.1:p.Asn393IlefsTer2
ENST00000635477.1:c.281_282insT
ENST00000635528.1:n.692_693insT
NM_000277.1:c.1177_1178insT	NP_000268.1:p.Asn393IlefsTer2
XM_011538422.1:c.1120_1121insT	XP_011536724.1:p.Asn374IlefsTer2
NM_000277.2:c.1177_1178insT	NP_000268.1:p.Asn393IlefsTer2
NM_001354304.1:c.1177_1178insT	NP_001341233.1:p.Asn393IlefsTer2
NM_000277.3:c.1177_1178insT MANE Select	NP_000268.1:p.Asn393IlefsTer2
NM_001354304.2:c.1177_1178insT	NP_001341233.1:p.Asn393IlefsTer2