Canonical Allele Identifier: CA682806419
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1461819602
gnomAD v2: 12-103248701-TTTGA-T
gnomAD v3: 12-102854923-TTTGA-T
gnomAD v4: 12-102854923-TTTGA-T
MyVariant Identifiers: chr12:g.103248702_103248705del (hg19) chr12:g.102854924_102854927del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854928_102854931del , CM000674.2:g.102854928_102854931del GRCh38
NC_000012.11:g.103248706_103248709del , CM000674.1:g.103248706_103248709del GRCh37
NC_000012.10:g.101772836_101772839del NCBI36
NG_008690.1:g.67676_67679del
NG_008690.2:g.108484_108487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+209_706+212del MANE Select ENSP00000448059.1:n.706+209_706+212del
ENST00000307000.7:c.691+209_691+212del ENSP00000303500.2:n.691+209_691+212del
ENST00000549111.5:n.1011_1014del
ENST00000553106.5:c.706+209_706+212del ENSP00000448059.1:n.706+209_706+212del
NM_000277.1:c.706+209_706+212del NP_000268.1:n.706+209_706+212del
XM_011538422.1:c.706+209_706+212del XP_011536724.1:n.706+209_706+212del
NM_000277.2:c.706+209_706+212del NP_000268.1:n.706+209_706+212del
NM_001354304.1:c.706+209_706+212del NP_001341233.1:n.706+209_706+212del
XM_017019370.2:c.707-126_707-123del XP_016874859.1:n.707-126_707-123del
NM_000277.3:c.706+209_706+212del MANE Select NP_000268.1:n.706+209_706+212del
NM_001354304.2:c.706+209_706+212del NP_001341233.1:n.706+209_706+212del
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