Canonical Allele Identifier: CA1814088284

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110067_118110068delinsGC , CM000670.2:g.118110067_118110068delinsGC	GRCh38
NC_000008.10:g.119122306_119122307delinsGC , CM000670.1:g.119122306_119122307delinsGC	GRCh37
NC_000008.9:g.119191487_119191488delinsGC	NCBI36
NG_007455.2:g.6752_6753delinsGC , LRG_493:g.6752_6753delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.962+17_962+18delinsGC MANE Select	ENSP00000367446.3:n.962+17_962+18delinsGC
ENST00000436216.2:c.330+17_330+18delinsGC
ENST00000378204.6:c.962+17_962+18delinsGC	ENSP00000367446.2:n.962+17_962+18delinsGC
ENST00000436216.1:c.330+17_330+18delinsGC
ENST00000437196.1:c.73+906_73+907delinsGC	ENSP00000407299.1:n.73+906_73+907delinsGC
NM_000127.2:c.962+17_962+18delinsGC , LRG_493t1:c.962+17_962+18delinsGC	NP_000118.2:n.962+17_962+18delinsGC
NM_000127.3:c.962+17_962+18delinsGC MANE Select	NP_000118.2:n.962+17_962+18delinsGC