Canonical Allele Identifier: CA2695210032

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835508_117835516delinsTGCTGAGCAATTTCTGAG , CM000670.2:g.117835508_117835516delinsTGCTGAGCAATTTCTGAG	GRCh38
NC_000008.10:g.118847747_118847755delinsTGCTGAGCAATTTCTGAG , CM000670.1:g.118847747_118847755delinsTGCTGAGCAATTTCTGAG	GRCh37
NC_000008.9:g.118916928_118916936delinsTGCTGAGCAATTTCTGAG	NCBI36
NG_007455.2:g.281304_281312delinsCTCAGAAATTGCTCAGCA , LRG_493:g.281304_281312delinsCTCAGAAATTGCTCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.559_567delinsCTCAGAAATTGCTCAGCA
ENST00000378204.7:c.1092_1100delinsCTCAGAAATTGCTCAGCA MANE Select	ENSP00000367446.3:p.Trp364_Pro367delinsCysSerGluIleAlaGlnGln
ENST00000436216.2:c.460_468delinsCTCAGAAATTGCTCAGCA
ENST00000378204.6:c.1092_1100delinsCTCAGAAATTGCTCAGCA	ENSP00000367446.2:p.Trp364_Pro367delinsCysSerGluIleAlaGlnGln
ENST00000436216.1:c.460_468delinsCTCAGAAATTGCTCAGCA
ENST00000437196.1:c.109_117delinsCTCAGAAATTGCTCAGCA	ENSP00000407299.1:p.Gly37_Val38delinsLeuArgAsnCysSer
NM_000127.2:c.1092_1100delinsCTCAGAAATTGCTCAGCA , LRG_493t1:c.1092_1100delinsCTCAGAAATTGCTCAGCA	NP_000118.2:p.Trp364_Pro367delinsCysSerGluIleAlaGlnGln
NM_000127.3:c.1092_1100delinsCTCAGAAATTGCTCAGCA MANE Select	NP_000118.2:p.Trp364_Pro367delinsCysSerGluIleAlaGlnGln