Canonical Allele Identifier: CA2620526994

Gene: PAH

Linked Data

• gnomAD v4: 12-102866574-TCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866578_102866580del , CM000674.2:g.102866578_102866580del	GRCh38
NC_000012.11:g.103260356_103260358del , CM000674.1:g.103260356_103260358del	GRCh37
NC_000012.10:g.101784486_101784488del	NCBI36
NG_008690.1:g.56026_56028del
NG_008690.2:g.96834_96836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.509+19_509+21del MANE Select	ENSP00000448059.1:n.509+19_509+21del
ENST00000307000.7:c.494+19_494+21del	ENSP00000303500.2:n.494+19_494+21del
ENST00000549111.5:n.605+19_605+21del
ENST00000551988.5:n.530+10885_530+10887del
ENST00000553106.5:c.509+19_509+21del	ENSP00000448059.1:n.509+19_509+21del
NM_000277.1:c.509+19_509+21del	NP_000268.1:n.509+19_509+21del
XM_011538422.1:c.509+19_509+21del	XP_011536724.1:n.509+19_509+21del
NM_000277.2:c.509+19_509+21del	NP_000268.1:n.509+19_509+21del
NM_001354304.1:c.509+19_509+21del	NP_001341233.1:n.509+19_509+21del
XM_017019370.2:c.509+19_509+21del	XP_016874859.1:n.509+19_509+21del
NM_000277.3:c.509+19_509+21del MANE Select	NP_000268.1:n.509+19_509+21del
NM_001354304.2:c.509+19_509+21del	NP_001341233.1:n.509+19_509+21del