Canonical Allele Identifier: CA2686745420

Gene: EXTL3

Linked Data

• gnomAD v4: 8-28716802-C-CGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716807_28716809dup , CM000670.2:g.28716807_28716809dup	GRCh38
NC_000008.10:g.28574324_28574326dup , CM000670.1:g.28574324_28574326dup	GRCh37
NC_000008.9:g.28630243_28630245dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.748_750dup	ENSP00000512467.1:p.Val250_Leu251insVal
ENST00000696178.1:c.748_750dup	ENSP00000512468.1:p.Val250_Leu251insVal
ENST00000696179.1:c.748_750dup	ENSP00000512469.1:p.Val250_Leu251insVal
ENST00000696180.1:c.748_750dup	ENSP00000512470.1:p.Val250_Leu251insVal
ENST00000696181.1:c.748_750dup	ENSP00000512471.1:p.Val250_Leu251insVal
ENST00000696182.1:c.-114-14416_-114-14414dup	ENSP00000512472.1:n.-114-14416_-114-14414dup
ENST00000696184.1:c.748_750dup	ENSP00000512473.1:p.Val250_Leu251insVal
ENST00000696185.1:n.1381_1383dup
ENST00000696186.1:c.748_750dup	ENSP00000512474.1:p.Val250_Leu251insVal
ENST00000220562.9:c.748_750dup MANE Select	ENSP00000220562.4:p.Val250_Leu251insVal
ENST00000220562.8:c.748_750dup	ENSP00000220562.4:p.Val250_Leu251insVal
ENST00000519886.5:n.631+741_631+743dup
ENST00000521532.5:c.42+6304_42+6306dup	ENSP00000431013.1:n.42+6304_42+6306dup
ENST00000522698.1:c.123_125dup
ENST00000523149.5:c.28-432_28-430dup	ENSP00000428691.1:n.28-432_28-430dup
NM_001440.3:c.748_750dup	NP_001431.1:p.Val250_Leu251insVal
NR_073468.1:n.188-14416_188-14414dup
NR_073469.1:n.763+741_763+743dup
XM_011544440.1:c.748_750dup	XP_011542742.1:p.Val250_Leu251insVal
XM_011544440.3:c.748_750dup	XP_011542742.1:p.Val250_Leu251insVal
XM_024447094.1:c.748_750dup	XP_024302862.1:p.Val250_Leu251insVal
XM_024447095.1:c.748_750dup	XP_024302863.1:p.Val250_Leu251insVal
XM_024447096.1:c.748_750dup	XP_024302864.1:p.Val250_Leu251insVal
NM_001440.4:c.748_750dup MANE Select	NP_001431.1:p.Val250_Leu251insVal
NR_073468.2:n.160-14416_160-14414dup
NR_073469.2:n.735+741_735+743dup