Canonical Allele Identifier: CA1813956719

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835549_117835557delinsAGCCTGAGC , CM000670.2:g.117835549_117835557delinsAGCCTGAGC	GRCh38
NC_000008.10:g.118847788_118847796delinsAGCCTGAGC , CM000670.1:g.118847788_118847796delinsAGCCTGAGC	GRCh37
NC_000008.9:g.118916969_118916977delinsAGCCTGAGC	NCBI36
NG_007455.2:g.281263_281271delinsGCTCAGGCT , LRG_493:g.281263_281271delinsGCTCAGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.524-6_526delinsGCTCAGGCT
ENST00000378204.7:c.1057-6_1059delinsGCTCAGGCT
ENST00000436216.2:c.425-6_427delinsGCTCAGGCT
ENST00000378204.6:c.1057-6_1059delinsGCTCAGGCT
ENST00000436216.1:c.425-6_427delinsGCTCAGGCT
ENST00000437196.1:c.74-6_76delinsGCTCAGGCT
NM_000127.2:c.1057-6_1059delinsGCTCAGGCT , LRG_493t1:c.1057-6_1059delinsGCTCAGGCT
NM_000127.3:c.1057-6_1059delinsGCTCAGGCT