Canonical Allele Identifier: CA915946683

Gene: PAH

Linked Data

• ClinVar Variation Id: 635217
• ClinVar RCV Id: RCV000851537
• dbSNP Id: rs1592978629
• ERepo: CA915946683/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894741_102894742del , CM000674.2:g.102894741_102894742del	GRCh38
NC_000012.11:g.103288519_103288520del , CM000674.1:g.103288519_103288520del	GRCh37
NC_000012.10:g.101812649_101812650del	NCBI36
NG_008690.1:g.27862_27863del
NG_008690.2:g.68670_68671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.346_347del MANE Select	ENSP00000448059.1:p.Asp116HisfsTer29
ENST00000307000.7:c.331_332del	ENSP00000303500.2:p.Asp111HisfsTer29
ENST00000546844.1:c.346_347del	ENSP00000446658.1:p.Asp116HisfsTer?
ENST00000548928.1:n.268_269del
ENST00000549111.5:n.442_443del
ENST00000550978.6:c.330_331del
ENST00000551337.5:c.346_347del	ENSP00000447620.1:p.Asp116HisfsTer?
ENST00000551988.5:n.435_436del
ENST00000553106.5:c.346_347del	ENSP00000448059.1:p.Asp116HisfsTer29
NM_000277.1:c.346_347del	NP_000268.1:p.Asp116HisfsTer29
XM_011538422.1:c.346_347del	XP_011536724.1:p.Asp116HisfsTer29
NM_000277.2:c.346_347del	NP_000268.1:p.Asp116HisfsTer29
NM_001354304.1:c.346_347del	NP_001341233.1:p.Asp116HisfsTer29
XM_017019370.2:c.346_347del	XP_016874859.1:p.Asp116HisfsTer29
NM_000277.3:c.346_347del MANE Select	NP_000268.1:p.Asp116HisfsTer29
NM_001354304.2:c.346_347del	NP_001341233.1:p.Asp116HisfsTer29