Canonical Allele Identifier: CA2740925484
Gene: EXTL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28717033_28717034insTGCAAT , CM000670.2:g.28717033_28717034insTGCAAT GRCh38
NC_000008.10:g.28574550_28574551insTGCAAT , CM000670.1:g.28574550_28574551insTGCAAT GRCh37
NC_000008.9:g.28630469_28630470insTGCAAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696177.1:c.974_975insTGCAAT ENSP00000512467.1:p.Glu325delinsAspAlaMet
ENST00000696178.1:c.974_975insTGCAAT ENSP00000512468.1:p.Glu325delinsAspAlaMet
ENST00000696179.1:c.974_975insTGCAAT ENSP00000512469.1:p.Glu325delinsAspAlaMet
ENST00000696180.1:c.974_975insTGCAAT ENSP00000512470.1:p.Glu325delinsAspAlaMet
ENST00000696181.1:c.974_975insTGCAAT ENSP00000512471.1:p.Glu325delinsAspAlaMet
ENST00000696182.1:c.-114-14190_-114-14189insTGCAAT ENSP00000512472.1:n.-114-14190_-114-14189insTGCAAT
ENST00000696184.1:c.974_975insTGCAAT ENSP00000512473.1:p.Glu325delinsAspAlaMet
ENST00000696185.1:n.1607_1608insTGCAAT
ENST00000696186.1:c.974_975insTGCAAT ENSP00000512474.1:p.Glu325delinsAspAlaMet
ENST00000220562.9:c.974_975insTGCAAT MANE Select ENSP00000220562.4:p.Glu325delinsAspAlaMet
ENST00000220562.8:c.974_975insTGCAAT ENSP00000220562.4:p.Glu325delinsAspAlaMet
ENST00000519886.5:n.631+967_631+968insTGCAAT
ENST00000521532.5:c.42+6530_42+6531insTGCAAT ENSP00000431013.1:n.42+6530_42+6531insTGCAAT
ENST00000522698.1:c.213+136_213+137insTGCAAT
ENST00000523149.5:c.28-206_28-205insTGCAAT ENSP00000428691.1:n.28-206_28-205insTGCAAT
NM_001440.3:c.974_975insTGCAAT NP_001431.1:p.Glu325delinsAspAlaMet
NR_073468.1:n.188-14190_188-14189insTGCAAT
NR_073469.1:n.763+967_763+968insTGCAAT
XM_011544440.1:c.974_975insTGCAAT XP_011542742.1:p.Glu325delinsAspAlaMet
XM_011544440.3:c.974_975insTGCAAT XP_011542742.1:p.Glu325delinsAspAlaMet
XM_024447094.1:c.974_975insTGCAAT XP_024302862.1:p.Glu325delinsAspAlaMet
XM_024447095.1:c.974_975insTGCAAT XP_024302863.1:p.Glu325delinsAspAlaMet
XM_024447096.1:c.974_975insTGCAAT XP_024302864.1:p.Glu325delinsAspAlaMet
NM_001440.4:c.974_975insTGCAAT MANE Select NP_001431.1:p.Glu325delinsAspAlaMet
NR_073468.2:n.160-14190_160-14189insTGCAAT
NR_073469.2:n.735+967_735+968insTGCAAT