Canonical Allele Identifier: CA1813956680

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835455_117835457delinsATC , CM000670.2:g.117835455_117835457delinsATC	GRCh38
NC_000008.10:g.118847694_118847696delinsATC , CM000670.1:g.118847694_118847696delinsATC	GRCh37
NC_000008.9:g.118916875_118916877delinsATC	NCBI36
NG_007455.2:g.281363_281365delinsGAT , LRG_493:g.281363_281365delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.618_620delinsGAT
ENST00000378204.7:c.1151_1153delinsGAT MANE Select	ENSP00000367446.3:p.Arg384=
ENST00000436216.2:c.519_521delinsGAT
ENST00000378204.6:c.1151_1153delinsGAT	ENSP00000367446.2:p.Arg384=
ENST00000436216.1:c.519_521delinsGAT
ENST00000437196.1:c.*42_*44delinsGAT	ENSP00000407299.1:n.*42_*44delinsGAT
NM_000127.2:c.1151_1153delinsGAT , LRG_493t1:c.1151_1153delinsGAT	NP_000118.2:p.Arg384=
NM_000127.3:c.1151_1153delinsGAT MANE Select	NP_000118.2:p.Arg384=