Canonical Allele Identifier: CA2059462469

Gene: PAH

Linked Data

• dbSNP Id: rs1876621307

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877478_102877479insCTTATTGT , CM000674.2:g.102877478_102877479insCTTATTGT	GRCh38
NC_000012.11:g.103271256_103271257insCTTATTGT , CM000674.1:g.103271256_103271257insCTTATTGT	GRCh37
NC_000012.10:g.101795386_101795387insCTTATTGT	NCBI36
NG_008690.1:g.45124_45125insACAATAAG
NG_008690.2:g.85932_85933insACAATAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.424_425insACAATAAG MANE Select	ENSP00000448059.1:p.Leu142HisfsTer?
ENST00000307000.7:c.409_410insACAATAAG	ENSP00000303500.2:p.Leu137HisfsTer?
ENST00000549111.5:n.520_521insACAATAAG
ENST00000550978.6:c.408_409insACAATAAG
ENST00000551988.5:n.513_514insACAATAAG
ENST00000553106.5:c.424_425insACAATAAG	ENSP00000448059.1:p.Leu142HisfsTer?
NM_000277.1:c.424_425insACAATAAG	NP_000268.1:p.Leu142HisfsTer?
XM_011538422.1:c.424_425insACAATAAG	XP_011536724.1:p.Leu142HisfsTer?
NM_000277.2:c.424_425insACAATAAG	NP_000268.1:p.Leu142HisfsTer?
NM_001354304.1:c.424_425insACAATAAG	NP_001341233.1:p.Leu142HisfsTer?
XM_017019370.2:c.424_425insACAATAAG	XP_016874859.1:p.Leu142HisfsTer?
NM_000277.3:c.424_425insACAATAAG MANE Select	NP_000268.1:p.Leu142HisfsTer?
NM_001354304.2:c.424_425insACAATAAG	NP_001341233.1:p.Leu142HisfsTer?