Canonical Allele Identifier: CA2620509819

Gene: PAH

Linked Data

• gnomAD v4: 12-102917017-TTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917019_102917022del , CM000674.2:g.102917019_102917022del	GRCh38
NC_000012.11:g.103310797_103310800del , CM000674.1:g.103310797_103310800del	GRCh37
NC_000012.10:g.101834927_101834930del	NCBI36
NG_008690.1:g.5582_5585del
NG_008690.2:g.46390_46393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.60+50_60+53del MANE Select	ENSP00000448059.1:n.60+50_60+53del
ENST00000307000.7:c.-88+50_-88+53del	ENSP00000303500.2:n.-88+50_-88+53del
ENST00000546844.1:c.60+50_60+53del	ENSP00000446658.1:n.60+50_60+53del
ENST00000547319.1:n.371+50_371+53del
ENST00000549111.5:n.156+50_156+53del
ENST00000550978.6:c.44+50_44+53del
ENST00000551337.5:c.60+50_60+53del	ENSP00000447620.1:n.60+50_60+53del
ENST00000551988.5:n.149+50_149+53del
ENST00000553106.5:c.60+50_60+53del	ENSP00000448059.1:n.60+50_60+53del
ENST00000635500.1:n.29-4123_29-4120del
NM_000277.1:c.60+50_60+53del	NP_000268.1:n.60+50_60+53del
XM_011538422.1:c.60+50_60+53del	XP_011536724.1:n.60+50_60+53del
NM_000277.2:c.60+50_60+53del	NP_000268.1:n.60+50_60+53del
NM_001354304.1:c.60+50_60+53del	NP_001341233.1:n.60+50_60+53del
XM_017019370.2:c.60+50_60+53del	XP_016874859.1:n.60+50_60+53del
NM_000277.3:c.60+50_60+53del MANE Select	NP_000268.1:n.60+50_60+53del
NM_001354304.2:c.60+50_60+53del	NP_001341233.1:n.60+50_60+53del