Canonical Allele Identifier: CA2566191419

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835393_117835394insA , CM000670.2:g.117835393_117835394insA	GRCh38
NC_000008.10:g.118847632_118847633insA , CM000670.1:g.118847632_118847633insA	GRCh37
NC_000008.9:g.118916813_118916814insA	NCBI36
NG_007455.2:g.281426_281427insT , LRG_493:g.281426_281427insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+50_631+51insT
ENST00000378204.7:c.1164+50_1164+51insT MANE Select	ENSP00000367446.3:n.1164+50_1164+51insT
ENST00000436216.2:c.532+50_532+51insT
ENST00000378204.6:c.1164+50_1164+51insT	ENSP00000367446.2:n.1164+50_1164+51insT
ENST00000436216.1:c.532+50_532+51insT
ENST00000437196.1:c.*55+50_*55+51insT	ENSP00000407299.1:n.*55+50_*55+51insT
NM_000127.2:c.1164+50_1164+51insT , LRG_493t1:c.1164+50_1164+51insT	NP_000118.2:n.1164+50_1164+51insT
NM_000127.3:c.1164+50_1164+51insT MANE Select	NP_000118.2:n.1164+50_1164+51insT