Canonical Allele Identifier: CA2059451260

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846894_102846897delinsCTGT , CM000674.2:g.102846894_102846897delinsCTGT	GRCh38
NC_000012.11:g.103240672_103240675delinsCTGT , CM000674.1:g.103240672_103240675delinsCTGT	GRCh37
NC_000012.10:g.101764802_101764805delinsCTGT	NCBI36
NG_008690.1:g.75706_75709delinsACAG
NG_008690.2:g.116514_116517delinsACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.967_969+1delinsACAG
ENST00000307000.7:c.952_954+1delinsACAG
ENST00000549247.6:n.726_728+1delinsACAG
ENST00000551114.2:n.629_631+1delinsACAG
ENST00000553106.5:c.967_969+1delinsACAG
ENST00000635477.1:c.74-2466_74-2463delinsACAG
ENST00000635528.1:n.482_484+1delinsACAG
NM_000277.1:c.967_969+1delinsACAG
XM_011538422.1:c.913-2466_913-2463delinsACAG	XP_011536724.1:n.913-2466_913-2463delinsA...
NM_000277.2:c.967_969+1delinsACAG
NM_001354304.1:c.967_969+1delinsACAG
NM_000277.3:c.967_969+1delinsACAG
NM_001354304.2:c.967_969+1delinsACAG