Canonical Allele Identifier: CA2059446759
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852951_102852952delinsCT , CM000674.2:g.102852951_102852952delinsCT GRCh38
NC_000012.11:g.103246729_103246730delinsCT , CM000674.1:g.103246729_103246730delinsCT GRCh37
NC_000012.10:g.101770859_101770860delinsCT NCBI36
NG_008690.1:g.69651_69652delinsAG
NG_008690.2:g.110459_110460delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.707-2_707-1delinsAG MANE Select ENSP00000448059.1:n.707-2_707-1delinsAG
ENST00000307000.7:c.692-2_692-1delinsAG ENSP00000303500.2:n.692-2_692-1delinsAG
ENST00000549247.6:n.464_465delinsAG
ENST00000553106.5:c.707-2_707-1delinsAG ENSP00000448059.1:n.707-2_707-1delinsAG
NM_000277.1:c.707-2_707-1delinsAG NP_000268.1:n.707-2_707-1delinsAG
XM_011538422.1:c.707-2_707-1delinsAG XP_011536724.1:n.707-2_707-1delinsAG
NM_000277.2:c.707-2_707-1delinsAG NP_000268.1:n.707-2_707-1delinsAG
NM_001354304.1:c.707-2_707-1delinsAG NP_001341233.1:n.707-2_707-1delinsAG
NM_000277.3:c.707-2_707-1delinsAG MANE Select NP_000268.1:n.707-2_707-1delinsAG
NM_001354304.2:c.707-2_707-1delinsAG NP_001341233.1:n.707-2_707-1delinsAG