Canonical Allele Identifier: CA1773391926

Gene: EXTL3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28717047_28717048delinsGA , CM000670.2:g.28717047_28717048delinsGA	GRCh38
NC_000008.10:g.28574564_28574565delinsGA , CM000670.1:g.28574564_28574565delinsGA	GRCh37
NC_000008.9:g.28630483_28630484delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.988_989delinsGA	ENSP00000512467.1:p.Glu330=
ENST00000696178.1:c.988_989delinsGA	ENSP00000512468.1:p.Glu330=
ENST00000696179.1:c.988_989delinsGA	ENSP00000512469.1:p.Glu330=
ENST00000696180.1:c.988_989delinsGA	ENSP00000512470.1:p.Glu330=
ENST00000696181.1:c.988_989delinsGA	ENSP00000512471.1:p.Glu330=
ENST00000696182.1:c.-114-14176_-114-14175delinsGA	ENSP00000512472.1:n.-114-14176_-114-14175delinsGA
ENST00000696184.1:c.988_989delinsGA	ENSP00000512473.1:p.Glu330=
ENST00000696185.1:n.1621_1622delinsGA
ENST00000696186.1:c.988_989delinsGA	ENSP00000512474.1:p.Glu330=
ENST00000220562.9:c.988_989delinsGA MANE Select	ENSP00000220562.4:p.Glu330=
ENST00000220562.8:c.988_989delinsGA	ENSP00000220562.4:p.Glu330=
ENST00000519886.5:n.631+981_631+982delinsGA
ENST00000521532.5:c.42+6544_42+6545delinsGA	ENSP00000431013.1:n.42+6544_42+6545delinsGA
ENST00000522698.1:c.213+150_213+151delinsGA
ENST00000523149.5:c.28-192_28-191delinsGA	ENSP00000428691.1:n.28-192_28-191delinsGA
NM_001440.3:c.988_989delinsGA	NP_001431.1:p.Glu330=
NR_073468.1:n.188-14176_188-14175delinsGA
NR_073469.1:n.763+981_763+982delinsGA
XM_011544440.1:c.988_989delinsGA	XP_011542742.1:p.Glu330=
XM_011544440.3:c.988_989delinsGA	XP_011542742.1:p.Glu330=
XM_024447094.1:c.988_989delinsGA	XP_024302862.1:p.Glu330=
XM_024447095.1:c.988_989delinsGA	XP_024302863.1:p.Glu330=
XM_024447096.1:c.988_989delinsGA	XP_024302864.1:p.Glu330=
NM_001440.4:c.988_989delinsGA MANE Select	NP_001431.1:p.Glu330=
NR_073468.2:n.160-14176_160-14175delinsGA
NR_073469.2:n.735+981_735+982delinsGA