Canonical Allele Identifier: CA267689
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs281865430

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846936_102846937del , CM000674.2:g.102846936_102846937del GRCh38
NC_000012.11:g.103240714_103240715del , CM000674.1:g.103240714_103240715del GRCh37
NC_000012.10:g.101764844_101764845del NCBI36
NG_008690.1:g.75670_75671del
NG_008690.2:g.116478_116479del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.931_932del MANE Select ENSP00000448059.1:p.Leu311GlyfsTer4
ENST00000307000.7:c.916_917del ENSP00000303500.2:p.Leu306GlyfsTer4
ENST00000549247.6:n.690_691del
ENST00000551114.2:n.593_594del
ENST00000553106.5:c.931_932del ENSP00000448059.1:p.Leu311GlyfsTer4
ENST00000635477.1:c.74-2502_74-2501del
ENST00000635528.1:n.446_447del
NM_000277.1:c.931_932del NP_000268.1:p.Leu311GlyfsTer4
XM_011538422.1:c.913-2502_913-2501del XP_011536724.1:n.913-2502_913-2501del
NM_000277.2:c.931_932del NP_000268.1:p.Leu311GlyfsTer4
NM_001354304.1:c.931_932del NP_001341233.1:p.Leu311GlyfsTer4
NM_000277.3:c.931_932del MANE Select NP_000268.1:p.Leu311GlyfsTer4
NM_001354304.2:c.931_932del NP_001341233.1:p.Leu311GlyfsTer4