Canonical Allele Identifier: CA1813949997

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117820046_117820047delinsCT , CM000670.2:g.117820046_117820047delinsCT	GRCh38
NC_000008.10:g.118832285_118832286delinsCT , CM000670.1:g.118832285_118832286delinsCT	GRCh37
NC_000008.9:g.118901466_118901467delinsCT	NCBI36
NG_007455.2:g.296773_296774delinsAG , LRG_493:g.296773_296774delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.885-253_885-252delinsAG
ENST00000378204.7:c.1418-253_1418-252delinsAG MANE Select	ENSP00000367446.3:n.1418-253_1418-252delinsAG
ENST00000378204.6:c.1418-253_1418-252delinsAG	ENSP00000367446.2:n.1418-253_1418-252delinsAG
ENST00000437196.1:c.*309-253_*309-252delinsAG	ENSP00000407299.1:n.*309-253_*309-252delinsAG
NM_000127.2:c.1418-253_1418-252delinsAG , LRG_493t1:c.1418-253_1418-252delinsAG	NP_000118.2:n.1418-253_1418-252delinsAG
NM_000127.3:c.1418-253_1418-252delinsAG MANE Select	NP_000118.2:n.1418-253_1418-252delinsAG