Canonical Allele Identifier: CA1813949958

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819927_117819928delinsTC , CM000670.2:g.117819927_117819928delinsTC	GRCh38
NC_000008.10:g.118832166_118832167delinsTC , CM000670.1:g.118832166_118832167delinsTC	GRCh37
NC_000008.9:g.118901347_118901348delinsTC	NCBI36
NG_007455.2:g.296892_296893delinsGA , LRG_493:g.296892_296893delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.885-134_885-133delinsGA
ENST00000378204.7:c.1418-134_1418-133delinsGA MANE Select	ENSP00000367446.3:n.1418-134_1418-133delinsGA
ENST00000378204.6:c.1418-134_1418-133delinsGA	ENSP00000367446.2:n.1418-134_1418-133delinsGA
ENST00000437196.1:c.*309-134_*309-133delinsGA	ENSP00000407299.1:n.*309-134_*309-133delinsGA
NM_000127.2:c.1418-134_1418-133delinsGA , LRG_493t1:c.1418-134_1418-133delinsGA	NP_000118.2:n.1418-134_1418-133delinsGA
NM_000127.3:c.1418-134_1418-133delinsGA MANE Select	NP_000118.2:n.1418-134_1418-133delinsGA