Canonical Allele Identifier: CA2059456792
Community Standard Title: NM_000277.3(PAH):c.509+386_509+389delinsAAGG
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866207_102866210delinsCCTT , CM000674.2:g.102866207_102866210delinsCCTT GRCh38
NC_000012.11:g.103259985_103259988delinsCCTT , CM000674.1:g.103259985_103259988delinsCCTT GRCh37
NC_000012.10:g.101784115_101784118delinsCCTT NCBI36
NG_008690.1:g.56393_56396delinsAAGG
NG_008690.2:g.97201_97204delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+386_509+389delinsAAGG MANE Select NP_000268.1:n.509+386_509+389delinsAAGG
ENST00000553106.6:c.509+386_509+389delinsAAGG MANE Select ENSP00000448059.1:n.509+386_509+389delinsAAGG
NM_000277.1:c.509+386_509+389delinsAAGG NP_000268.1:n.509+386_509+389delinsAAGG
NM_000277.2:c.509+386_509+389delinsAAGG NP_000268.1:n.509+386_509+389delinsAAGG
NM_001354304.1:c.509+386_509+389delinsAAGG NP_001341233.1:n.509+386_509+389delinsAAGG
NM_001354304.2:c.509+386_509+389delinsAAGG NP_001341233.1:n.509+386_509+389delinsAAGG
ENST00000307000.7:c.494+386_494+389delinsAAGG ENSP00000303500.2:n.494+386_494+389delinsAAGG
ENST00000549111.5:n.605+386_605+389delinsAAGG
ENST00000551988.5:n.531-10878_531-10875delinsAAGG
ENST00000553106.5:c.509+386_509+389delinsAAGG ENSP00000448059.1:n.509+386_509+389delinsAAGG
XM_011538422.1:c.509+386_509+389delinsAAGG XP_011536724.1:n.509+386_509+389delinsAAGG
XM_017019370.2:c.509+386_509+389delinsAAGG XP_016874859.1:n.509+386_509+389delinsAAGG
Search 100 bp 5'
Search 100 bp 3'