Canonical Allele Identifier: CA2686745432

Gene: EXTL3

Linked Data

• gnomAD v4: 8-28716993-T-TGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716993_28716994insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG , CM000670.2:g.28716993_28716994insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	GRCh38
NC_000008.10:g.28574510_28574511insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG , CM000670.1:g.28574510_28574511insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	GRCh37
NC_000008.9:g.28630429_28630430insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000512467.1:p.Phe312Ter
ENST00000696178.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000512468.1:p.Phe312Ter
ENST00000696179.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000512469.1:p.Phe312Ter
ENST00000696180.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000512470.1:p.Phe312Ter
ENST00000696181.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000512471.1:p.Phe312Ter
ENST00000696182.1:c.-114-14230_-114-14229insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000512472.1:n.-114-14230_-114-14229insGAGAGATGCAGGAGCCG...
ENST00000696184.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000512473.1:p.Phe312Ter
ENST00000696185.1:n.1567_1568insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG
ENST00000696186.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000512474.1:p.Phe312Ter
ENST00000220562.9:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG MANE Select	ENSP00000220562.4:p.Phe312Ter
ENST00000220562.8:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000220562.4:p.Phe312Ter
ENST00000519886.5:n.631+927_631+928insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG
ENST00000521532.5:c.42+6490_42+6491insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000431013.1:n.42+6490_42+6491insGAGAGATGCAGGAGCCGGTGGTG...
ENST00000522698.1:c.213+96_213+97insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG
ENST00000523149.5:c.28-246_28-245insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	ENSP00000428691.1:n.28-246_28-245insGAGAGATGCAGGAGCCGGTGGTGCT...
NM_001440.3:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	NP_001431.1:p.Phe312Ter
NR_073468.1:n.188-14230_188-14229insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG
NR_073469.1:n.763+927_763+928insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG
XM_011544440.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	XP_011542742.1:p.Phe312Ter
XM_011544440.3:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	XP_011542742.1:p.Phe312Ter
XM_024447094.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	XP_024302862.1:p.Phe312Ter
XM_024447095.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	XP_024302863.1:p.Phe312Ter
XM_024447096.1:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG	XP_024302864.1:p.Phe312Ter
NM_001440.4:c.934_935insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG MANE Select	NP_001431.1:p.Phe312Ter
NR_073468.2:n.160-14230_160-14229insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG
NR_073469.2:n.735+927_735+928insGAGAGATGCAGGAGCCGGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAG