Canonical Allele Identifier: CA2059456561
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865673_102865681delinsGGGCTTAGA , CM000674.2:g.102865673_102865681delinsGGGCTTAGA GRCh38
NC_000012.11:g.103259451_103259459delinsGGGCTTAGA , CM000674.1:g.103259451_103259459delinsGGGCTTAGA GRCh37
NC_000012.10:g.101783581_101783589delinsGGGCTTAGA NCBI36
NG_008690.1:g.56922_56930delinsTCTAAGCCC
NG_008690.2:g.97730_97738delinsTCTAAGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+915_509+923delinsTCTAAGCCC MANE Select ENSP00000448059.1:n.509+915_509+923delinsTCTAAGCCC
ENST00000307000.7:c.494+915_494+923delinsTCTAAGCCC ENSP00000303500.2:n.494+915_494+923delinsTCTAAGCCC
ENST00000549111.5:n.605+915_605+923delinsTCTAAGCCC
ENST00000551988.5:n.531-10349_531-10341delinsTCTAAGCCC
ENST00000553106.5:c.509+915_509+923delinsTCTAAGCCC ENSP00000448059.1:n.509+915_509+923delinsTCTAAGCCC
NM_000277.1:c.509+915_509+923delinsTCTAAGCCC NP_000268.1:n.509+915_509+923delinsTCTAAGCCC
XM_011538422.1:c.509+915_509+923delinsTCTAAGCCC XP_011536724.1:n.509+915_509+923delinsTCTAAGCCC
NM_000277.2:c.509+915_509+923delinsTCTAAGCCC NP_000268.1:n.509+915_509+923delinsTCTAAGCCC
NM_001354304.1:c.509+915_509+923delinsTCTAAGCCC NP_001341233.1:n.509+915_509+923delinsTCTAAGCCC
XM_017019370.2:c.509+915_509+923delinsTCTAAGCCC XP_016874859.1:n.509+915_509+923delinsTCTAAGCCC
NM_000277.3:c.509+915_509+923delinsTCTAAGCCC MANE Select NP_000268.1:n.509+915_509+923delinsTCTAAGCCC
NM_001354304.2:c.509+915_509+923delinsTCTAAGCCC NP_001341233.1:n.509+915_509+923delinsTCTAAGCCC
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