Canonical Allele Identifier: CA2520806373

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837198_117837199insGTTCGCCCTCCGCAAATTCAAACGCAGGCAAGTCTGCCTGTTCGCTTGCCTCACGGCTTTTGCGCGACCACAGCTCAATCATCTTTTCGTAAAACTCAACCTGTCCCATGATTAACGACGATTCT , CM000670.2:g.117837198_117837199insGTTCGCCCTCCGCAAATTCAAACGCAGGCAAGTCTGCCTGTTCGCTTGCCTCACGGCTTTTGCGCGACCACAGCTCAATCATCTTTTCGTAAAACTCAACCTGTCCCATGATTAACGACGATTCT	GRCh38
NC_000008.10:g.118849437_118849438insGTTCGCCCTCCGCAAATTCAAACGCAGGCAAGTCTGCCTGTTCGCTTGCCTCACGGCTTTTGCGCGACCACAGCTCAATCATCTTTTCGTAAAACTCAACCTGTCCCATGATTAACGACGATTCT , CM000670.1:g.118849437_118849438insGTTCGCCCTCCGCAAATTCAAACGCAGGCAAGTCTGCCTGTTCGCTTGCCTCACGGCTTTTGCGCGACCACAGCTCAATCATCTTTTCGTAAAACTCAACCTGTCCCATGATTAACGACGATTCT	GRCh37
NC_000008.9:g.118918618_118918619insGTTCGCCCTCCGCAAATTCAAACGCAGGCAAGTCTGCCTGTTCGCTTGCCTCACGGCTTTTGCGCGACCACAGCTCAATCATCTTTTCGTAAAACTCAACCTGTCCCATGATTAACGACGATTCT	NCBI36
NG_007455.2:g.279621_279622insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC , LRG_493:g.279621_279622insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.432_433insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC
ENST00000378204.7:c.965_966insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC MANE Select	ENSP00000367446.3:p.Tyr322Ter
ENST00000436216.2:c.333_334insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC
ENST00000378204.6:c.965_966insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC	ENSP00000367446.2:p.Tyr322Ter
ENST00000436216.1:c.333_334insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC
ENST00000437196.1:c.74-1648_74-1647insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC	ENSP00000407299.1:n.74-1648_74-1647insAGAATCGTCGTTAATCATGGGAC...
NM_000127.2:c.965_966insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC , LRG_493t1:c.965_966insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC	NP_000118.2:p.Tyr322Ter
NM_000127.3:c.965_966insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC MANE Select	NP_000118.2:p.Tyr322Ter