Canonical Allele Identifier: CA229518
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102652
ClinVar RCV Id: RCV000088899 RCV001175457
dbSNP Id: rs199475648
gnomAD v4: 12-102894739-GTCTT-G
MyVariant Identifiers: chr12:g.103288520_103288523del (hg19) chr12:g.103288518_103288521del (hg19) chr12:g.102894740_102894743del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894744_102894747del , CM000674.2:g.102894744_102894747del GRCh38
NC_000012.11:g.103288522_103288525del , CM000674.1:g.103288522_103288525del GRCh37
NC_000012.10:g.101812652_101812655del NCBI36
NG_008690.1:g.27860_27863del
NG_008690.2:g.68668_68671del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.344_347del MANE Select ENSP00000448059.1:p.Lys115ThrfsTer?
ENST00000307000.7:c.329_332del ENSP00000303500.2:p.Lys110ThrfsTer?
ENST00000546844.1:c.344_347del ENSP00000446658.1:p.Lys115ThrfsTer?
ENST00000548928.1:n.266_269del
ENST00000549111.5:n.440_443del
ENST00000550978.6:c.328_331del
ENST00000551337.5:c.344_347del ENSP00000447620.1:p.Lys115ThrfsTer?
ENST00000551988.5:n.433_436del
ENST00000553106.5:c.344_347del ENSP00000448059.1:p.Lys115ThrfsTer?
NM_000277.1:c.344_347del NP_000268.1:p.Lys115ThrfsTer?
XM_011538422.1:c.344_347del XP_011536724.1:p.Lys115ThrfsTer?
NM_000277.2:c.344_347del NP_000268.1:p.Lys115ThrfsTer?
NM_001354304.1:c.344_347del NP_001341233.1:p.Lys115ThrfsTer?
XM_017019370.2:c.344_347del XP_016874859.1:p.Lys115ThrfsTer?
NM_000277.3:c.344_347del MANE Select NP_000268.1:p.Lys115ThrfsTer?
NM_001354304.2:c.344_347del NP_001341233.1:p.Lys115ThrfsTer?
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