Canonical Allele Identifier: CA2059476230
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917237_102917241delinsAAGAG , CM000674.2:g.102917237_102917241delinsAAGAG GRCh38
NC_000012.11:g.103311015_103311019delinsAAGAG , CM000674.1:g.103311015_103311019delinsAAGAG GRCh37
NC_000012.10:g.101835145_101835149delinsAAGAG NCBI36
NG_008690.1:g.5362_5366delinsCTCTT
NG_008690.2:g.46170_46174delinsCTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-111_-107delinsCTCTT MANE Select ENSP00000448059.1:n.-111_-107delinsCTCTT
ENST00000307000.7:c.-258_-254delinsCTCTT ENSP00000303500.2:n.-258_-254delinsCTCTT
ENST00000546708.5:n.493-16_493-12delinsCTCTT
ENST00000546844.1:c.-95-16_-95-12delinsCTCTT ENSP00000446658.1:n.-95-16_-95-12delinsCTCTT
ENST00000547319.1:n.217-16_217-12delinsCTCTT
ENST00000551337.5:c.-95-16_-95-12delinsCTCTT ENSP00000447620.1:n.-95-16_-95-12delinsCTCTT
ENST00000553106.5:c.-111_-107delinsCTCTT ENSP00000448059.1:n.-111_-107delinsCTCTT
ENST00000635500.1:n.29-4343_29-4339delinsCTCTT
NM_000277.1:c.-111_-107delinsCTCTT NP_000268.1:n.-111_-107delinsCTCTT
XM_011538422.1:c.-111_-107delinsCTCTT XP_011536724.1:n.-111_-107delinsCTCTT
NM_000277.2:c.-111_-107delinsCTCTT NP_000268.1:n.-111_-107delinsCTCTT
NM_001354304.1:c.-95-16_-95-12delinsCTCTT NP_001341233.1:n.-95-16_-95-12delinsCTCTT
XM_017019370.2:c.-111_-107delinsCTCTT XP_016874859.1:n.-111_-107delinsCTCTT
NM_000277.3:c.-111_-107delinsCTCTT MANE Select NP_000268.1:n.-111_-107delinsCTCTT
NM_001354304.2:c.-95-16_-95-12delinsCTCTT NP_001341233.1:n.-95-16_-95-12delinsCTCTT
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