Canonical Allele Identifier: CA2059448815

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844556_102844557delinsAG , CM000674.2:g.102844556_102844557delinsAG	GRCh38
NC_000012.11:g.103238334_103238335delinsAG , CM000674.1:g.103238334_103238335delinsAG	GRCh37
NC_000012.10:g.101762464_101762465delinsAG	NCBI36
NG_008690.1:g.78046_78047delinsCT
NG_008690.2:g.118854_118855delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-126_970-125delinsCT MANE Select	ENSP00000448059.1:n.970-126_970-125delinsCT
ENST00000307000.7:c.955-126_955-125delinsCT	ENSP00000303500.2:n.955-126_955-125delinsCT
ENST00000549247.6:n.729-126_729-125delinsCT
ENST00000551114.2:n.632-126_632-125delinsCT
ENST00000553106.5:c.970-126_970-125delinsCT	ENSP00000448059.1:n.970-126_970-125delinsCT
ENST00000635477.1:c.74-126_74-125delinsCT
ENST00000635528.1:n.485-126_485-125delinsCT
NM_000277.1:c.970-126_970-125delinsCT	NP_000268.1:n.970-126_970-125delinsCT
XM_011538422.1:c.913-126_913-125delinsCT	XP_011536724.1:n.913-126_913-125delinsCT
NM_000277.2:c.970-126_970-125delinsCT	NP_000268.1:n.970-126_970-125delinsCT
NM_001354304.1:c.970-126_970-125delinsCT	NP_001341233.1:n.970-126_970-125delinsCT
NM_000277.3:c.970-126_970-125delinsCT MANE Select	NP_000268.1:n.970-126_970-125delinsCT
NM_001354304.2:c.970-126_970-125delinsCT	NP_001341233.1:n.970-126_970-125delinsCT