Canonical Allele Identifier: CA1773390814

Gene: EXTL3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716543_28716546delinsGAGA , CM000670.2:g.28716543_28716546delinsGAGA	GRCh38
NC_000008.10:g.28574060_28574063delinsGAGA , CM000670.1:g.28574060_28574063delinsGAGA	GRCh37
NC_000008.9:g.28629979_28629982delinsGAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.484_487delinsGAGA	ENSP00000512467.1:p.Glu162=
ENST00000696178.1:c.484_487delinsGAGA	ENSP00000512468.1:p.Glu162=
ENST00000696179.1:c.484_487delinsGAGA	ENSP00000512469.1:p.Glu162=
ENST00000696180.1:c.484_487delinsGAGA	ENSP00000512470.1:p.Glu162=
ENST00000696181.1:c.484_487delinsGAGA	ENSP00000512471.1:p.Glu162=
ENST00000696182.1:c.-114-14680_-114-14677delinsGAGA	ENSP00000512472.1:n.-114-14680_-114-14677delinsGAGA
ENST00000696184.1:c.484_487delinsGAGA	ENSP00000512473.1:p.Glu162=
ENST00000696185.1:n.1117_1120delinsGAGA
ENST00000696186.1:c.484_487delinsGAGA	ENSP00000512474.1:p.Glu162=
ENST00000220562.9:c.484_487delinsGAGA MANE Select	ENSP00000220562.4:p.Glu162=
ENST00000220562.8:c.484_487delinsGAGA	ENSP00000220562.4:p.Glu162=
ENST00000519886.5:n.631+477_631+480delinsGAGA
ENST00000521532.5:c.42+6040_42+6043delinsGAGA	ENSP00000431013.1:n.42+6040_42+6043delinsGAGA
ENST00000523149.5:c.28-696_28-693delinsGAGA	ENSP00000428691.1:n.28-696_28-693delinsGAGA
NM_001440.3:c.484_487delinsGAGA	NP_001431.1:p.Glu162=
NR_073468.1:n.188-14680_188-14677delinsGAGA
NR_073469.1:n.763+477_763+480delinsGAGA
XM_011544440.1:c.484_487delinsGAGA	XP_011542742.1:p.Glu162=
XM_011544440.3:c.484_487delinsGAGA	XP_011542742.1:p.Glu162=
XM_024447094.1:c.484_487delinsGAGA	XP_024302862.1:p.Glu162=
XM_024447095.1:c.484_487delinsGAGA	XP_024302863.1:p.Glu162=
XM_024447096.1:c.484_487delinsGAGA	XP_024302864.1:p.Glu162=
NM_001440.4:c.484_487delinsGAGA MANE Select	NP_001431.1:p.Glu162=
NR_073468.2:n.160-14680_160-14677delinsGAGA
NR_073469.2:n.735+477_735+480delinsGAGA