Canonical Allele Identifier: CA1813956675

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835442_117835443delinsAC , CM000670.2:g.117835442_117835443delinsAC	GRCh38
NC_000008.10:g.118847681_118847682delinsAC , CM000670.1:g.118847681_118847682delinsAC	GRCh37
NC_000008.9:g.118916862_118916863delinsAC	NCBI36
NG_007455.2:g.281377_281378delinsGT , LRG_493:g.281377_281378delinsGT

Transcript Alleles

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