Canonical Allele Identifier: CA2601918583
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102851280-CACTTAATTCAA-C
gnomAD v4: 12-102851280-CACTTAATTCAA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851281_102851291del , CM000674.2:g.102851281_102851291del GRCh38
NC_000012.11:g.103245059_103245069del , CM000674.1:g.103245059_103245069del GRCh37
NC_000012.10:g.101769189_101769199del NCBI36
NG_008690.1:g.71312_71322del
NG_008690.2:g.112120_112130del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.912+396_912+406del MANE Select ENSP00000448059.1:n.912+396_912+406del
ENST00000307000.7:c.897+396_897+406del ENSP00000303500.2:n.897+396_897+406del
ENST00000549247.6:n.671+396_671+406del
ENST00000551114.2:n.574+396_574+406del
ENST00000553106.5:c.912+396_912+406del ENSP00000448059.1:n.912+396_912+406del
ENST00000635477.1:c.73+396_73+406del
NM_000277.1:c.912+396_912+406del NP_000268.1:n.912+396_912+406del
XM_011538422.1:c.912+396_912+406del XP_011536724.1:n.912+396_912+406del
NM_000277.2:c.912+396_912+406del NP_000268.1:n.912+396_912+406del
NM_001354304.1:c.912+396_912+406del NP_001341233.1:n.912+396_912+406del
NM_000277.3:c.912+396_912+406del MANE Select NP_000268.1:n.912+396_912+406del
NM_001354304.2:c.912+396_912+406del NP_001341233.1:n.912+396_912+406del
Search 100 bp 5'
Search 100 bp 3'