Canonical Allele Identifier: CA682818658
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1394517478
gnomAD v3: 12-102916615-AAGG-A
gnomAD v4: 12-102916615-AAGG-A
MyVariant Identifiers: chr12:g.103310394_103310396del (hg19) chr12:g.102916616_102916618del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916620_102916622del , CM000674.2:g.102916620_102916622del GRCh38
NC_000012.11:g.103310398_103310400del , CM000674.1:g.103310398_103310400del GRCh37
NC_000012.10:g.101834528_101834530del NCBI36
NG_008690.1:g.5985_5987del
NG_008690.2:g.46793_46795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+453_60+455del MANE Select ENSP00000448059.1:n.60+453_60+455del
ENST00000307000.7:c.-88+453_-88+455del ENSP00000303500.2:n.-88+453_-88+455del
ENST00000546844.1:c.60+453_60+455del ENSP00000446658.1:n.60+453_60+455del
ENST00000547319.1:n.372-20_372-18del
ENST00000549111.5:n.156+453_156+455del
ENST00000550978.6:c.44+453_44+455del
ENST00000551337.5:c.60+453_60+455del ENSP00000447620.1:n.60+453_60+455del
ENST00000551988.5:n.149+453_149+455del
ENST00000553106.5:c.60+453_60+455del ENSP00000448059.1:n.60+453_60+455del
ENST00000635500.1:n.29-3720_29-3718del
NM_000277.1:c.60+453_60+455del NP_000268.1:n.60+453_60+455del
XM_011538422.1:c.60+453_60+455del XP_011536724.1:n.60+453_60+455del
NM_000277.2:c.60+453_60+455del NP_000268.1:n.60+453_60+455del
NM_001354304.1:c.60+453_60+455del NP_001341233.1:n.60+453_60+455del
XM_017019370.2:c.60+453_60+455del XP_016874859.1:n.60+453_60+455del
NM_000277.3:c.60+453_60+455del MANE Select NP_000268.1:n.60+453_60+455del
NM_001354304.2:c.60+453_60+455del NP_001341233.1:n.60+453_60+455del
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