Canonical Allele Identifier: CA2620507826
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102877617-A-ATCCCCACTTCTGATC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877619_102877620insCCCACTTCTGATCTC , CM000674.2:g.102877619_102877620insCCCACTTCTGATCTC GRCh38
NC_000012.11:g.103271397_103271398insCCCACTTCTGATCTC , CM000674.1:g.103271397_103271398insCCCACTTCTGATCTC GRCh37
NC_000012.10:g.101795527_101795528insCCCACTTCTGATCTC NCBI36
NG_008690.1:g.44985_44986insGATCAGAAGTGGGGA
NG_008690.2:g.85793_85794insGATCAGAAGTGGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.353-68_353-67insGATCAGAAGTGGGGA MANE Select ENSP00000448059.1:n.353-68_353-67insGATCAGAAGTGGGGA
ENST00000307000.7:c.338-68_338-67insGATCAGAAGTGGGGA ENSP00000303500.2:n.338-68_338-67insGATCAGAAGTGGGGA
ENST00000549111.5:n.449-68_449-67insGATCAGAAGTGGGGA
ENST00000550978.6:c.337-68_337-67insGATCAGAAGTGGGGA
ENST00000551337.5:c.353-68_353-67insGATCAGAAGTGGGGA ENSP00000447620.1:n.353-68_353-67insGATCAGAAGTGGGGA
ENST00000551988.5:n.442-68_442-67insGATCAGAAGTGGGGA
ENST00000553106.5:c.353-68_353-67insGATCAGAAGTGGGGA ENSP00000448059.1:n.353-68_353-67insGATCAGAAGTGGGGA
NM_000277.1:c.353-68_353-67insGATCAGAAGTGGGGA NP_000268.1:n.353-68_353-67insGATCAGAAGTGGGGA
XM_011538422.1:c.353-68_353-67insGATCAGAAGTGGGGA XP_011536724.1:n.353-68_353-67insGATCAGAAGTGGGGA
NM_000277.2:c.353-68_353-67insGATCAGAAGTGGGGA NP_000268.1:n.353-68_353-67insGATCAGAAGTGGGGA
NM_001354304.1:c.353-68_353-67insGATCAGAAGTGGGGA NP_001341233.1:n.353-68_353-67insGATCAGAAGTGGGGA
XM_017019370.2:c.353-68_353-67insGATCAGAAGTGGGGA XP_016874859.1:n.353-68_353-67insGATCAGAAGTGGGGA
NM_000277.3:c.353-68_353-67insGATCAGAAGTGGGGA MANE Select NP_000268.1:n.353-68_353-67insGATCAGAAGTGGGGA
NM_001354304.2:c.353-68_353-67insGATCAGAAGTGGGGA NP_001341233.1:n.353-68_353-67insGATCAGAAGTGGGGA
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