Canonical Allele Identifier: CA916084111
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844432_102846897del , CM000674.2:g.102844432_102846897del GRCh38
NC_000012.11:g.103238210_103240675del , CM000674.1:g.103238210_103240675del GRCh37
NC_000012.10:g.101762340_101764805del NCBI36
NG_008690.1:g.75707_78172del
NG_008690.2:g.116515_118980del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.968_970del
ENST00000307000.7:c.953_955del
ENST00000549247.6:n.727_729del
ENST00000551114.2:n.630_632del
ENST00000553106.5:c.968_970del
ENST00000635477.1:c.74-2465_74del
ENST00000635528.1:n.483_485del
NM_000277.1:c.968_970del
XM_011538422.1:c.913-2465_913del
NM_000277.2:c.968_970del
NM_001354304.1:c.968_970del
NM_000277.3:c.968_970del
NM_001354304.2:c.968_970del