Canonical Allele Identifier: CA2059476231
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917239_102917240delinsGA , CM000674.2:g.102917239_102917240delinsGA GRCh38
NC_000012.11:g.103311017_103311018delinsGA , CM000674.1:g.103311017_103311018delinsGA GRCh37
NC_000012.10:g.101835147_101835148delinsGA NCBI36
NG_008690.1:g.5363_5364delinsTC
NG_008690.2:g.46171_46172delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-110_-109delinsTC MANE Select ENSP00000448059.1:n.-110_-109delinsTC
ENST00000307000.7:c.-257_-256delinsTC ENSP00000303500.2:n.-257_-256delinsTC
ENST00000546708.5:n.493-15_493-14delinsTC
ENST00000546844.1:c.-95-15_-95-14delinsTC ENSP00000446658.1:n.-95-15_-95-14delinsTC
ENST00000547319.1:n.217-15_217-14delinsTC
ENST00000551337.5:c.-95-15_-95-14delinsTC ENSP00000447620.1:n.-95-15_-95-14delinsTC
ENST00000553106.5:c.-110_-109delinsTC ENSP00000448059.1:n.-110_-109delinsTC
ENST00000635500.1:n.29-4342_29-4341delinsTC
NM_000277.1:c.-110_-109delinsTC NP_000268.1:n.-110_-109delinsTC
XM_011538422.1:c.-110_-109delinsTC XP_011536724.1:n.-110_-109delinsTC
NM_000277.2:c.-110_-109delinsTC NP_000268.1:n.-110_-109delinsTC
NM_001354304.1:c.-95-15_-95-14delinsTC NP_001341233.1:n.-95-15_-95-14delinsTC
XM_017019370.2:c.-110_-109delinsTC XP_016874859.1:n.-110_-109delinsTC
NM_000277.3:c.-110_-109delinsTC MANE Select NP_000268.1:n.-110_-109delinsTC
NM_001354304.2:c.-95-15_-95-14delinsTC NP_001341233.1:n.-95-15_-95-14delinsTC
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