Canonical Allele Identifier: CA2059473087
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912632_102912648delinsGACTTAACTAAGGTCAC , CM000674.2:g.102912632_102912648delinsGACTTAACTAAGGTCAC GRCh38
NC_000012.11:g.103306410_103306426delinsGACTTAACTAAGGTCAC , CM000674.1:g.103306410_103306426delinsGACTTAACTAAGGTCAC GRCh37
NC_000012.10:g.101830540_101830556delinsGACTTAACTAAGGTCAC NCBI36
NG_008690.1:g.9955_9971delinsGTGACCTTAGTTAAGTC
NG_008690.2:g.50763_50779delinsGTGACCTTAGTTAAGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+143_168+159delinsGTGACCTTAGTTAAGTC MANE Select ENSP00000448059.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
ENST00000307000.7:c.153+143_153+159delinsGTGACCTTAGTTAAGTC ENSP00000303500.2:n.153+143_153+159delinsGTGACCTTAGTTAAGTC
ENST00000546844.1:c.168+143_168+159delinsGTGACCTTAGTTAAGTC ENSP00000446658.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
ENST00000548677.2:n.255+143_255+159delinsGTGACCTTAGTTAAGTC
ENST00000548928.1:n.90+143_90+159delinsGTGACCTTAGTTAAGTC
ENST00000549111.5:n.264+143_264+159delinsGTGACCTTAGTTAAGTC
ENST00000550978.6:c.152+143_152+159delinsGTGACCTTAGTTAAGTC
ENST00000551337.5:c.168+143_168+159delinsGTGACCTTAGTTAAGTC ENSP00000447620.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
ENST00000551988.5:n.257+143_257+159delinsGTGACCTTAGTTAAGTC
ENST00000553106.5:c.168+143_168+159delinsGTGACCTTAGTTAAGTC ENSP00000448059.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
ENST00000635500.1:n.136+143_136+159delinsGTGACCTTAGTTAAGTC
NM_000277.1:c.168+143_168+159delinsGTGACCTTAGTTAAGTC NP_000268.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
XM_011538422.1:c.168+143_168+159delinsGTGACCTTAGTTAAGTC XP_011536724.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
NM_000277.2:c.168+143_168+159delinsGTGACCTTAGTTAAGTC NP_000268.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
NM_001354304.1:c.168+143_168+159delinsGTGACCTTAGTTAAGTC NP_001341233.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
XM_017019370.2:c.168+143_168+159delinsGTGACCTTAGTTAAGTC XP_016874859.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
NM_000277.3:c.168+143_168+159delinsGTGACCTTAGTTAAGTC MANE Select NP_000268.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC
NM_001354304.2:c.168+143_168+159delinsGTGACCTTAGTTAAGTC NP_001341233.1:n.168+143_168+159delinsGTGACCTTAGTTAAGTC