Canonical Allele Identifier: CA682818661
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1308473814
MyVariant Identifiers: chr12:g.103310406_103310409del (hg19) chr12:g.102916628_102916631del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916630_102916633del , CM000674.2:g.102916630_102916633del GRCh38
NC_000012.11:g.103310408_103310411del , CM000674.1:g.103310408_103310411del GRCh37
NC_000012.10:g.101834538_101834541del NCBI36
NG_008690.1:g.5972_5975del
NG_008690.2:g.46780_46783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+440_60+443del MANE Select ENSP00000448059.1:n.60+440_60+443del
ENST00000307000.7:c.-88+440_-88+443del ENSP00000303500.2:n.-88+440_-88+443del
ENST00000546844.1:c.60+440_60+443del ENSP00000446658.1:n.60+440_60+443del
ENST00000547319.1:n.372-33_372-30del
ENST00000549111.5:n.156+440_156+443del
ENST00000550978.6:c.44+440_44+443del
ENST00000551337.5:c.60+440_60+443del ENSP00000447620.1:n.60+440_60+443del
ENST00000551988.5:n.149+440_149+443del
ENST00000553106.5:c.60+440_60+443del ENSP00000448059.1:n.60+440_60+443del
ENST00000635500.1:n.29-3733_29-3730del
NM_000277.1:c.60+440_60+443del NP_000268.1:n.60+440_60+443del
XM_011538422.1:c.60+440_60+443del XP_011536724.1:n.60+440_60+443del
NM_000277.2:c.60+440_60+443del NP_000268.1:n.60+440_60+443del
NM_001354304.1:c.60+440_60+443del NP_001341233.1:n.60+440_60+443del
XM_017019370.2:c.60+440_60+443del XP_016874859.1:n.60+440_60+443del
NM_000277.3:c.60+440_60+443del MANE Select NP_000268.1:n.60+440_60+443del
NM_001354304.2:c.60+440_60+443del NP_001341233.1:n.60+440_60+443del
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