Canonical Allele Identifier: CA1813950006

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117820065_117820066delinsGA , CM000670.2:g.117820065_117820066delinsGA	GRCh38
NC_000008.10:g.118832304_118832305delinsGA , CM000670.1:g.118832304_118832305delinsGA	GRCh37
NC_000008.9:g.118901485_118901486delinsGA	NCBI36
NG_007455.2:g.296754_296755delinsTC , LRG_493:g.296754_296755delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.885-272_885-271delinsTC
ENST00000378204.7:c.1418-272_1418-271delinsTC MANE Select	ENSP00000367446.3:n.1418-272_1418-271delinsTC
ENST00000378204.6:c.1418-272_1418-271delinsTC	ENSP00000367446.2:n.1418-272_1418-271delinsTC
ENST00000437196.1:c.*309-272_*309-271delinsTC	ENSP00000407299.1:n.*309-272_*309-271delinsTC
NM_000127.2:c.1418-272_1418-271delinsTC , LRG_493t1:c.1418-272_1418-271delinsTC	NP_000118.2:n.1418-272_1418-271delinsTC
NM_000127.3:c.1418-272_1418-271delinsTC MANE Select	NP_000118.2:n.1418-272_1418-271delinsTC