Canonical Allele Identifier: CA1814090750

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111703_118111722delinsCGGCGGCGGCGGCGCTGGGT , CM000670.2:g.118111703_118111722delinsCGGCGGCGGCGGCGCTGGGT	GRCh38
NC_000008.10:g.119123942_119123961delinsCGGCGGCGGCGGCGCTGGGT , CM000670.1:g.119123942_119123961delinsCGGCGGCGGCGGCGCTGGGT	GRCh37
NC_000008.9:g.119193123_119193142delinsCGGCGGCGGCGGCGCTGGGT	NCBI36
NG_007455.2:g.5098_5117delinsACCCAGCGCCGCCGCCGCCG , LRG_493:g.5098_5117delinsACCCAGCGCCGCCGCCGCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.-676_-657delinsACCCAGCGCCGCCGCCGCCG MANE Select	ENSP00000367446.3:n.-676_-657delinsACCCAGCGCCGCCGCCGCCG
ENST00000378204.6:c.-676_-657delinsACCCAGCGCCGCCGCCGCCG	ENSP00000367446.2:n.-676_-657delinsACCCAGCGCCGCCGCCGCCG
NM_000127.2:c.-676_-657delinsACCCAGCGCCGCCGCCGCCG , LRG_493t1:c.-676_-657delinsACCCAGCGCCGCCGCCGCCG	NP_000118.2:n.-676_-657delinsACCCAGCGCCGCCGCCGCCG
NM_000127.3:c.-676_-657delinsACCCAGCGCCGCCGCCGCCG MANE Select	NP_000118.2:n.-676_-657delinsACCCAGCGCCGCCGCCGCCG