Canonical Allele Identifier: CA2620515581

Gene: PAH

Linked Data

• gnomAD v4: 12-102852988-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852990del , CM000674.2:g.102852990del	GRCh38
NC_000012.11:g.103246768del , CM000674.1:g.103246768del	GRCh37
NC_000012.10:g.101770898del	NCBI36
NG_008690.1:g.69614del
NG_008690.2:g.110422del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.707-39del MANE Select	ENSP00000448059.1:n.707-39del
ENST00000307000.7:c.692-39del	ENSP00000303500.2:n.692-39del
ENST00000549247.6:n.427del
ENST00000553106.5:c.707-39del	ENSP00000448059.1:n.707-39del
NM_000277.1:c.707-39del	NP_000268.1:n.707-39del
XM_011538422.1:c.707-39del	XP_011536724.1:n.707-39del
NM_000277.2:c.707-39del	NP_000268.1:n.707-39del
NM_001354304.1:c.707-39del	NP_001341233.1:n.707-39del
NM_000277.3:c.707-39del MANE Select	NP_000268.1:n.707-39del
NM_001354304.2:c.707-39del	NP_001341233.1:n.707-39del