Canonical Allele Identifier: CA2620514154

Gene: PAH

Linked Data

• gnomAD v4: 12-102852677-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852682del , CM000674.2:g.102852682del	GRCh38
NC_000012.11:g.103246460del , CM000674.1:g.103246460del	GRCh37
NC_000012.10:g.101770590del	NCBI36
NG_008690.1:g.69925del
NG_008690.2:g.110733del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.842+137del MANE Select	ENSP00000448059.1:n.842+137del
ENST00000307000.7:c.827+137del	ENSP00000303500.2:n.827+137del
ENST00000549247.6:n.601+137del
ENST00000553106.5:c.842+137del	ENSP00000448059.1:n.842+137del
ENST00000635477.1:c.3+137del
NM_000277.1:c.842+137del	NP_000268.1:n.842+137del
XM_011538422.1:c.842+137del	XP_011536724.1:n.842+137del
NM_000277.2:c.842+137del	NP_000268.1:n.842+137del
NM_001354304.1:c.842+137del	NP_001341233.1:n.842+137del
NM_000277.3:c.842+137del MANE Select	NP_000268.1:n.842+137del
NM_001354304.2:c.842+137del	NP_001341233.1:n.842+137del