Canonical Allele Identifier: CA1813949948

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819909_117819910delinsTC , CM000670.2:g.117819909_117819910delinsTC	GRCh38
NC_000008.10:g.118832148_118832149delinsTC , CM000670.1:g.118832148_118832149delinsTC	GRCh37
NC_000008.9:g.118901329_118901330delinsTC	NCBI36
NG_007455.2:g.296910_296911delinsGA , LRG_493:g.296910_296911delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.885-116_885-115delinsGA
ENST00000378204.7:c.1418-116_1418-115delinsGA MANE Select	ENSP00000367446.3:n.1418-116_1418-115delinsGA
ENST00000378204.6:c.1418-116_1418-115delinsGA	ENSP00000367446.2:n.1418-116_1418-115delinsGA
ENST00000437196.1:c.*309-116_*309-115delinsGA	ENSP00000407299.1:n.*309-116_*309-115delinsGA
NM_000127.2:c.1418-116_1418-115delinsGA , LRG_493t1:c.1418-116_1418-115delinsGA	NP_000118.2:n.1418-116_1418-115delinsGA
NM_000127.3:c.1418-116_1418-115delinsGA MANE Select	NP_000118.2:n.1418-116_1418-115delinsGA