Canonical Allele Identifier: CA2620508143

Gene: PAH

Linked Data

• gnomAD v4: 12-102894829-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894830del , CM000674.2:g.102894830del	GRCh38
NC_000012.11:g.103288608del , CM000674.1:g.103288608del	GRCh37
NC_000012.10:g.101812738del	NCBI36
NG_008690.1:g.27773del
NG_008690.2:g.68581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.257del MANE Select	ENSP00000448059.1:p.Arg86LeufsTer6
ENST00000307000.7:c.242del	ENSP00000303500.2:p.Arg81LeufsTer6
ENST00000546844.1:c.257del	ENSP00000446658.1:p.Arg86LeufsTer6
ENST00000548677.2:n.344del
ENST00000548928.1:n.179del
ENST00000549111.5:n.353del
ENST00000550978.6:c.241del
ENST00000551337.5:c.257del	ENSP00000447620.1:p.Arg86LeufsTer6
ENST00000551988.5:n.346del
ENST00000553106.5:c.257del	ENSP00000448059.1:p.Arg86LeufsTer6
NM_000277.1:c.257del	NP_000268.1:p.Arg86LeufsTer6
XM_011538422.1:c.257del	XP_011536724.1:p.Arg86LeufsTer6
NM_000277.2:c.257del	NP_000268.1:p.Arg86LeufsTer6
NM_001354304.1:c.257del	NP_001341233.1:p.Arg86LeufsTer6
XM_017019370.2:c.257del	XP_016874859.1:p.Arg86LeufsTer6
NM_000277.3:c.257del MANE Select	NP_000268.1:p.Arg86LeufsTer6
NM_001354304.2:c.257del	NP_001341233.1:p.Arg86LeufsTer6