Canonical Allele Identifier: CA2686745438

Gene: EXTL3

Linked Data

• gnomAD v4: 8-28717051-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28717053_28717054del , CM000670.2:g.28717053_28717054del	GRCh38
NC_000008.10:g.28574570_28574571del , CM000670.1:g.28574570_28574571del	GRCh37
NC_000008.9:g.28630489_28630490del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.994_995del	ENSP00000512467.1:p.Pro332ThrfsTer19
ENST00000696178.1:c.994_995del	ENSP00000512468.1:p.Pro332ThrfsTer19
ENST00000696179.1:c.994_995del	ENSP00000512469.1:p.Pro332ThrfsTer19
ENST00000696180.1:c.994_995del	ENSP00000512470.1:p.Pro332ThrfsTer19
ENST00000696181.1:c.994_995del	ENSP00000512471.1:p.Pro332ThrfsTer19
ENST00000696182.1:c.-114-14170_-114-14169del	ENSP00000512472.1:n.-114-14170_-114-14169del
ENST00000696184.1:c.994_995del	ENSP00000512473.1:p.Pro332ThrfsTer19
ENST00000696185.1:n.1627_1628del
ENST00000696186.1:c.994_995del	ENSP00000512474.1:p.Pro332ThrfsTer19
ENST00000220562.9:c.994_995del MANE Select	ENSP00000220562.4:p.Pro332ThrfsTer19
ENST00000220562.8:c.994_995del	ENSP00000220562.4:p.Pro332ThrfsTer19
ENST00000519886.5:n.631+987_631+988del
ENST00000521532.5:c.42+6550_42+6551del	ENSP00000431013.1:n.42+6550_42+6551del
ENST00000522698.1:c.213+156_213+157del
ENST00000523149.5:c.28-186_28-185del	ENSP00000428691.1:n.28-186_28-185del
NM_001440.3:c.994_995del	NP_001431.1:p.Pro332ThrfsTer19
NR_073468.1:n.188-14170_188-14169del
NR_073469.1:n.763+987_763+988del
XM_011544440.1:c.994_995del	XP_011542742.1:p.Pro332ThrfsTer19
XM_011544440.3:c.994_995del	XP_011542742.1:p.Pro332ThrfsTer19
XM_024447094.1:c.994_995del	XP_024302862.1:p.Pro332ThrfsTer19
XM_024447095.1:c.994_995del	XP_024302863.1:p.Pro332ThrfsTer19
XM_024447096.1:c.994_995del	XP_024302864.1:p.Pro332ThrfsTer19
NM_001440.4:c.994_995del MANE Select	NP_001431.1:p.Pro332ThrfsTer19
NR_073468.2:n.160-14170_160-14169del
NR_073469.2:n.735+987_735+988del