Canonical Allele Identifier: CA2580078099

Gene: EXTL3

Linked Data

• ClinVar Variation Id: 2004083
• ClinVar RCV Id: RCV002815840

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716927_28716944del , CM000670.2:g.28716927_28716944del	GRCh38
NC_000008.10:g.28574444_28574461del , CM000670.1:g.28574444_28574461del	GRCh37
NC_000008.9:g.28630363_28630380del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.868_885del	ENSP00000512467.1:p.Asn290_Arg295del
ENST00000696178.1:c.868_885del	ENSP00000512468.1:p.Asn290_Arg295del
ENST00000696179.1:c.868_885del	ENSP00000512469.1:p.Asn290_Arg295del
ENST00000696180.1:c.868_885del	ENSP00000512470.1:p.Asn290_Arg295del
ENST00000696181.1:c.868_885del	ENSP00000512471.1:p.Asn290_Arg295del
ENST00000696182.1:c.-114-14296_-114-14279del	ENSP00000512472.1:n.-114-14296_-114-14279del
ENST00000696184.1:c.868_885del	ENSP00000512473.1:p.Asn290_Arg295del
ENST00000696185.1:n.1501_1518del
ENST00000696186.1:c.868_885del	ENSP00000512474.1:p.Asn290_Arg295del
ENST00000220562.9:c.868_885del MANE Select	ENSP00000220562.4:p.Asn290_Arg295del
ENST00000220562.8:c.868_885del	ENSP00000220562.4:p.Asn290_Arg295del
ENST00000519886.5:n.631+861_631+878del
ENST00000521532.5:c.42+6424_42+6441del	ENSP00000431013.1:n.42+6424_42+6441del
ENST00000522698.1:c.213+30_213+47del
ENST00000523149.5:c.28-312_28-295del	ENSP00000428691.1:n.28-312_28-295del
NM_001440.3:c.868_885del	NP_001431.1:p.Asn290_Arg295del
NR_073468.1:n.188-14296_188-14279del
NR_073469.1:n.763+861_763+878del
XM_011544440.1:c.868_885del	XP_011542742.1:p.Asn290_Arg295del
XM_011544440.3:c.868_885del	XP_011542742.1:p.Asn290_Arg295del
XM_024447094.1:c.868_885del	XP_024302862.1:p.Asn290_Arg295del
XM_024447095.1:c.868_885del	XP_024302863.1:p.Asn290_Arg295del
XM_024447096.1:c.868_885del	XP_024302864.1:p.Asn290_Arg295del
NM_001440.4:c.868_885del MANE Select	NP_001431.1:p.Asn290_Arg295del
NR_073468.2:n.160-14296_160-14279del
NR_073469.2:n.735+861_735+878del