Canonical Allele Identifier: CA2695199166

Gene: PAH

Linked Data

• ClinVar Variation Id: 2677434
• ClinVar RCV Id: RCV003471651

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852865del , CM000674.2:g.102852865del	GRCh38
NC_000012.11:g.103246643del , CM000674.1:g.103246643del	GRCh37
NC_000012.10:g.101770773del	NCBI36
NG_008690.1:g.69738del
NG_008690.2:g.110546del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.792del MANE Select	ENSP00000448059.1:p.Cys265AlafsTer?
ENST00000307000.7:c.777del	ENSP00000303500.2:p.Cys260AlafsTer?
ENST00000549247.6:n.551del
ENST00000553106.5:c.792del	ENSP00000448059.1:p.Cys265AlafsTer?
NM_000277.1:c.792del	NP_000268.1:p.Cys265AlafsTer?
XM_011538422.1:c.792del	XP_011536724.1:p.Cys265AlafsTer?
NM_000277.2:c.792del	NP_000268.1:p.Cys265AlafsTer?
NM_001354304.1:c.792del	NP_001341233.1:p.Cys265AlafsTer?
NM_000277.3:c.792del MANE Select	NP_000268.1:p.Cys265AlafsTer?
NM_001354304.2:c.792del	NP_001341233.1:p.Cys265AlafsTer?