Canonical Allele Identifier: CA919161392
Community Standard Title: NM_000277.3(PAH):c.590_610delinsGTATAAAACCCATGCTTGCTA (p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855232_102855252delinsTAGCAAGCATGGGTTTTATAC , CM000674.2:g.102855232_102855252delinsTAGCAAGCATGGGTTTTATAC GRCh38
NC_000012.11:g.103249010_103249030delinsTAGCAAGCATGGGTTTTATAC , CM000674.1:g.103249010_103249030delinsTAGCAAGCATGGGTTTTATAC GRCh37
NC_000012.10:g.101773140_101773160delinsTAGCAAGCATGGGTTTTATAC NCBI36
NG_008690.1:g.67351_67371delinsGTATAAAACCCATGCTTGCTA
NG_008690.2:g.108159_108179delinsGTATAAAACCCATGCTTGCTA

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.590_610delinsGTATAAAACCCATGCTTGCTA MANE Select NP_000268.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn
ENST00000553106.6:c.590_610delinsGTATAAAACCCATGCTTGCTA MANE Select ENSP00000448059.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaA...
NM_000277.1:c.590_610delinsGTATAAAACCCATGCTTGCTA NP_000268.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn
NM_000277.2:c.590_610delinsGTATAAAACCCATGCTTGCTA NP_000268.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn
NM_001354304.1:c.590_610delinsGTATAAAACCCATGCTTGCTA NP_001341233.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn
NM_001354304.2:c.590_610delinsGTATAAAACCCATGCTTGCTA NP_001341233.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn
ENST00000307000.7:c.575_595delinsGTATAAAACCCATGCTTGCTA ENSP00000303500.2:p.Leu192_Tyr199delinsCysIleLysProMetLeuAlaA...
ENST00000549111.5:n.686_706delinsGTATAAAACCCATGCTTGCTA
ENST00000553106.5:c.590_610delinsGTATAAAACCCATGCTTGCTA ENSP00000448059.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaA...
XM_011538422.1:c.590_610delinsGTATAAAACCCATGCTTGCTA XP_011536724.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn
XM_017019370.2:c.590_610delinsGTATAAAACCCATGCTTGCTA XP_016874859.1:p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn
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