Canonical Allele Identifier: CA2059456595
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865748_102865752delinsCTCTT , CM000674.2:g.102865748_102865752delinsCTCTT GRCh38
NC_000012.11:g.103259526_103259530delinsCTCTT , CM000674.1:g.103259526_103259530delinsCTCTT GRCh37
NC_000012.10:g.101783656_101783660delinsCTCTT NCBI36
NG_008690.1:g.56851_56855delinsAAGAG
NG_008690.2:g.97659_97663delinsAAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+844_509+848delinsAAGAG MANE Select ENSP00000448059.1:n.509+844_509+848delinsAAGAG
ENST00000307000.7:c.494+844_494+848delinsAAGAG ENSP00000303500.2:n.494+844_494+848delinsAAGAG
ENST00000549111.5:n.605+844_605+848delinsAAGAG
ENST00000551988.5:n.531-10420_531-10416delinsAAGAG
ENST00000553106.5:c.509+844_509+848delinsAAGAG ENSP00000448059.1:n.509+844_509+848delinsAAGAG
NM_000277.1:c.509+844_509+848delinsAAGAG NP_000268.1:n.509+844_509+848delinsAAGAG
XM_011538422.1:c.509+844_509+848delinsAAGAG XP_011536724.1:n.509+844_509+848delinsAAGAG
NM_000277.2:c.509+844_509+848delinsAAGAG NP_000268.1:n.509+844_509+848delinsAAGAG
NM_001354304.1:c.509+844_509+848delinsAAGAG NP_001341233.1:n.509+844_509+848delinsAAGAG
XM_017019370.2:c.509+844_509+848delinsAAGAG XP_016874859.1:n.509+844_509+848delinsAAGAG
NM_000277.3:c.509+844_509+848delinsAAGAG MANE Select NP_000268.1:n.509+844_509+848delinsAAGAG
NM_001354304.2:c.509+844_509+848delinsAAGAG NP_001341233.1:n.509+844_509+848delinsAAGAG
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