Canonical Allele Identifier: CA580955696

Gene: EXTL3

Linked Data

• dbSNP Id: rs1563214708
• gnomAD v2: 8-28574060-GAGA-G
• gnomAD v4: 8-28716543-GAGA-G
• MyVariant Identifiers: chr8:g.28574061_28574063del (hg19) ; chr8:g.28716544_28716546del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716546_28716548del , CM000670.2:g.28716546_28716548del	GRCh38
NC_000008.10:g.28574063_28574065del , CM000670.1:g.28574063_28574065del	GRCh37
NC_000008.9:g.28629982_28629984del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.487_489del	ENSP00000512467.1:p.Lys163del
ENST00000696178.1:c.487_489del	ENSP00000512468.1:p.Lys163del
ENST00000696179.1:c.487_489del	ENSP00000512469.1:p.Lys163del
ENST00000696180.1:c.487_489del	ENSP00000512470.1:p.Lys163del
ENST00000696181.1:c.487_489del	ENSP00000512471.1:p.Lys163del
ENST00000696182.1:c.-114-14677_-114-14675del	ENSP00000512472.1:n.-114-14677_-114-14675del
ENST00000696184.1:c.487_489del	ENSP00000512473.1:p.Lys163del
ENST00000696185.1:n.1120_1122del
ENST00000696186.1:c.487_489del	ENSP00000512474.1:p.Lys163del
ENST00000220562.9:c.487_489del MANE Select	ENSP00000220562.4:p.Lys163del
ENST00000220562.8:c.487_489del	ENSP00000220562.4:p.Lys163del
ENST00000519886.5:n.631+480_631+482del
ENST00000521532.5:c.42+6043_42+6045del	ENSP00000431013.1:n.42+6043_42+6045del
ENST00000523149.5:c.28-693_28-691del	ENSP00000428691.1:n.28-693_28-691del
NM_001440.3:c.487_489del	NP_001431.1:p.Lys163del
NR_073468.1:n.188-14677_188-14675del
NR_073469.1:n.763+480_763+482del
XM_011544440.1:c.487_489del	XP_011542742.1:p.Lys163del
XM_011544440.3:c.487_489del	XP_011542742.1:p.Lys163del
XM_024447094.1:c.487_489del	XP_024302862.1:p.Lys163del
XM_024447095.1:c.487_489del	XP_024302863.1:p.Lys163del
XM_024447096.1:c.487_489del	XP_024302864.1:p.Lys163del
NM_001440.4:c.487_489del MANE Select	NP_001431.1:p.Lys163del
NR_073468.2:n.160-14677_160-14675del
NR_073469.2:n.735+480_735+482del