Canonical Allele Identifier: CA607156420
Gene: PAH HGNC NCBI

Linked Data

gnomAD v2: 12-103260306-AGGGCAAG-A
gnomAD v4: 12-102866528-AGGGCAAG-A
MyVariant Identifiers: chr12:g.103260307_103260313del (hg19) chr12:g.102866529_102866535del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866531_102866537del , CM000674.2:g.102866531_102866537del GRCh38
NC_000012.11:g.103260309_103260315del , CM000674.1:g.103260309_103260315del GRCh37
NC_000012.10:g.101784439_101784445del NCBI36
NG_008690.1:g.56068_56074del
NG_008690.2:g.96876_96882del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+61_509+67del MANE Select ENSP00000448059.1:n.509+61_509+67del
ENST00000307000.7:c.494+61_494+67del ENSP00000303500.2:n.494+61_494+67del
ENST00000549111.5:n.605+61_605+67del
ENST00000551988.5:n.530+10927_530+10933del
ENST00000553106.5:c.509+61_509+67del ENSP00000448059.1:n.509+61_509+67del
NM_000277.1:c.509+61_509+67del NP_000268.1:n.509+61_509+67del
XM_011538422.1:c.509+61_509+67del XP_011536724.1:n.509+61_509+67del
NM_000277.2:c.509+61_509+67del NP_000268.1:n.509+61_509+67del
NM_001354304.1:c.509+61_509+67del NP_001341233.1:n.509+61_509+67del
XM_017019370.2:c.509+61_509+67del XP_016874859.1:n.509+61_509+67del
NM_000277.3:c.509+61_509+67del MANE Select NP_000268.1:n.509+61_509+67del
NM_001354304.2:c.509+61_509+67del NP_001341233.1:n.509+61_509+67del
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