Canonical Allele Identifier: CA2620507640

Gene: PAH

Linked Data

• gnomAD v4: 12-102877543-C-CCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877545_102877546insTTCA , CM000674.2:g.102877545_102877546insTTCA	GRCh38
NC_000012.11:g.103271323_103271324insTTCA , CM000674.1:g.103271323_103271324insTTCA	GRCh37
NC_000012.10:g.101795453_101795454insTTCA	NCBI36
NG_008690.1:g.45059_45060insAATG
NG_008690.2:g.85867_85868insAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.359_360insAATG MANE Select	ENSP00000448059.1:p.Trp120Ter
ENST00000307000.7:c.344_345insAATG	ENSP00000303500.2:p.Trp115Ter
ENST00000549111.5:n.455_456insAATG
ENST00000550978.6:c.343_344insAATG
ENST00000551337.5:c.359_360insAATG	ENSP00000447620.1:p.Trp120Ter
ENST00000551988.5:n.448_449insAATG
ENST00000553106.5:c.359_360insAATG	ENSP00000448059.1:p.Trp120Ter
NM_000277.1:c.359_360insAATG	NP_000268.1:p.Trp120Ter
XM_011538422.1:c.359_360insAATG	XP_011536724.1:p.Trp120Ter
NM_000277.2:c.359_360insAATG	NP_000268.1:p.Trp120Ter
NM_001354304.1:c.359_360insAATG	NP_001341233.1:p.Trp120Ter
XM_017019370.2:c.359_360insAATG	XP_016874859.1:p.Trp120Ter
NM_000277.3:c.359_360insAATG MANE Select	NP_000268.1:p.Trp120Ter
NM_001354304.2:c.359_360insAATG	NP_001341233.1:p.Trp120Ter