Canonical Allele Identifier: CA2059450868
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874847515
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846465_102846466insCAGCATCTATTCTTGAGA , CM000674.2:g.102846465_102846466insCAGCATCTATTCTTGAGA GRCh38
NC_000012.11:g.103240243_103240244insCAGCATCTATTCTTGAGA , CM000674.1:g.103240243_103240244insCAGCATCTATTCTTGAGA GRCh37
NC_000012.10:g.101764373_101764374insCAGCATCTATTCTTGAGA NCBI36
NG_008690.1:g.76137_76138insTCTCAAGAATAGATGCTG
NG_008690.2:g.116945_116946insTCTCAAGAATAGATGCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+429_969+430insTCTCAAGAATAGATGCTG MANE Select ENSP00000448059.1:n.969+429_969+430insTCTCAAGAATAGATGCTG
ENST00000307000.7:c.954+429_954+430insTCTCAAGAATAGATGCTG ENSP00000303500.2:n.954+429_954+430insTCTCAAGAATAGATGCTG
ENST00000549247.6:n.728+429_728+430insTCTCAAGAATAGATGCTG
ENST00000551114.2:n.631+429_631+430insTCTCAAGAATAGATGCTG
ENST00000553106.5:c.969+429_969+430insTCTCAAGAATAGATGCTG ENSP00000448059.1:n.969+429_969+430insTCTCAAGAATAGATGCTG
ENST00000635477.1:c.74-2035_74-2034insTCTCAAGAATAGATGCTG
ENST00000635528.1:n.484+429_484+430insTCTCAAGAATAGATGCTG
NM_000277.1:c.969+429_969+430insTCTCAAGAATAGATGCTG NP_000268.1:n.969+429_969+430insTCTCAAGAATAGATGCTG
XM_011538422.1:c.913-2035_913-2034insTCTCAAGAATAGATGCTG XP_011536724.1:n.913-2035_913-2034insTCTCAAGAATAGATGCTG
NM_000277.2:c.969+429_969+430insTCTCAAGAATAGATGCTG NP_000268.1:n.969+429_969+430insTCTCAAGAATAGATGCTG
NM_001354304.1:c.969+429_969+430insTCTCAAGAATAGATGCTG NP_001341233.1:n.969+429_969+430insTCTCAAGAATAGATGCTG
NM_000277.3:c.969+429_969+430insTCTCAAGAATAGATGCTG MANE Select NP_000268.1:n.969+429_969+430insTCTCAAGAATAGATGCTG
NM_001354304.2:c.969+429_969+430insTCTCAAGAATAGATGCTG NP_001341233.1:n.969+429_969+430insTCTCAAGAATAGATGCTG
Search 100 bp 5'
Search 100 bp 3'