Canonical Allele Identifier: CA1813957390

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837146_117837149delinsGACC , CM000670.2:g.117837146_117837149delinsGACC	GRCh38
NC_000008.10:g.118849385_118849388delinsGACC , CM000670.1:g.118849385_118849388delinsGACC	GRCh37
NC_000008.9:g.118918566_118918569delinsGACC	NCBI36
NG_007455.2:g.279671_279674delinsGGTC , LRG_493:g.279671_279674delinsGGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.482_485delinsGGTC
ENST00000378204.7:c.1015_1018delinsGGTC MANE Select	ENSP00000367446.3:p.Gly339=
ENST00000436216.2:c.383_386delinsGGTC
ENST00000378204.6:c.1015_1018delinsGGTC	ENSP00000367446.2:p.Gly339=
ENST00000436216.1:c.383_386delinsGGTC
ENST00000437196.1:c.74-1598_74-1595delinsGGTC	ENSP00000407299.1:n.74-1598_74-1595delinsGGTC
NM_000127.2:c.1015_1018delinsGGTC , LRG_493t1:c.1015_1018delinsGGTC	NP_000118.2:p.Gly339=
NM_000127.3:c.1015_1018delinsGGTC MANE Select	NP_000118.2:p.Gly339=