Canonical Allele Identifier: CA645556197

Gene: EXTL3

Linked Data

• COSMIC: COSM112120

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716602_28716603insCATGTC , CM000670.2:g.28716602_28716603insCATGTC	GRCh38
NC_000008.10:g.28574119_28574120insCATGTC , CM000670.1:g.28574119_28574120insCATGTC	GRCh37
NC_000008.9:g.28630038_28630039insCATGTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.543_544insCATGTC	ENSP00000512467.1:p.Asn181_Cys182insHisVal
ENST00000696178.1:c.543_544insCATGTC	ENSP00000512468.1:p.Asn181_Cys182insHisVal
ENST00000696179.1:c.543_544insCATGTC	ENSP00000512469.1:p.Asn181_Cys182insHisVal
ENST00000696180.1:c.543_544insCATGTC	ENSP00000512470.1:p.Asn181_Cys182insHisVal
ENST00000696181.1:c.543_544insCATGTC	ENSP00000512471.1:p.Asn181_Cys182insHisVal
ENST00000696182.1:c.-114-14621_-114-14620insCATGTC	ENSP00000512472.1:n.-114-14621_-114-14620insCATGTC
ENST00000696184.1:c.543_544insCATGTC	ENSP00000512473.1:p.Asn181_Cys182insHisVal
ENST00000696185.1:n.1176_1177insCATGTC
ENST00000696186.1:c.543_544insCATGTC	ENSP00000512474.1:p.Asn181_Cys182insHisVal
ENST00000220562.9:c.543_544insCATGTC MANE Select	ENSP00000220562.4:p.Asn181_Cys182insHisVal
ENST00000220562.8:c.543_544insCATGTC	ENSP00000220562.4:p.Asn181_Cys182insHisVal
ENST00000519886.5:n.631+536_631+537insCATGTC
ENST00000521532.5:c.42+6099_42+6100insCATGTC	ENSP00000431013.1:n.42+6099_42+6100insCATGTC
ENST00000523149.5:c.28-637_28-636insCATGTC	ENSP00000428691.1:n.28-637_28-636insCATGTC
NM_001440.3:c.543_544insCATGTC	NP_001431.1:p.Asn181_Cys182insHisVal
NR_073468.1:n.188-14621_188-14620insCATGTC
NR_073469.1:n.763+536_763+537insCATGTC
XM_011544440.1:c.543_544insCATGTC	XP_011542742.1:p.Asn181_Cys182insHisVal
XM_011544440.3:c.543_544insCATGTC	XP_011542742.1:p.Asn181_Cys182insHisVal
XM_024447094.1:c.543_544insCATGTC	XP_024302862.1:p.Asn181_Cys182insHisVal
XM_024447095.1:c.543_544insCATGTC	XP_024302863.1:p.Asn181_Cys182insHisVal
XM_024447096.1:c.543_544insCATGTC	XP_024302864.1:p.Asn181_Cys182insHisVal
NM_001440.4:c.543_544insCATGTC MANE Select	NP_001431.1:p.Asn181_Cys182insHisVal
NR_073468.2:n.160-14621_160-14620insCATGTC
NR_073469.2:n.735+536_735+537insCATGTC