Canonical Allele Identifier: CA1813957368

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837106_117837111delinsACCTGC , CM000670.2:g.117837106_117837111delinsACCTGC	GRCh38
NC_000008.10:g.118849345_118849350delinsACCTGC , CM000670.1:g.118849345_118849350delinsACCTGC	GRCh37
NC_000008.9:g.118918526_118918531delinsACCTGC	NCBI36
NG_007455.2:g.279709_279714delinsGCAGGT , LRG_493:g.279709_279714delinsGCAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.520_523+2delinsGCAGGT
ENST00000378204.7:c.1053_1056+2delinsGCAGGT
ENST00000436216.2:c.421_424+2delinsGCAGGT
ENST00000378204.6:c.1053_1056+2delinsGCAGGT
ENST00000436216.1:c.421_424+2delinsGCAGGT
ENST00000437196.1:c.74-1560_74-1555delinsGCAGGT	ENSP00000407299.1:n.74-1560_74-1555delinsGCAGGT
NM_000127.2:c.1053_1056+2delinsGCAGGT , LRG_493t1:c.1053_1056+2delinsGCAGGT
NM_000127.3:c.1053_1056+2delinsGCAGGT