Canonical Allele Identifier: CA2841329059

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837023_117837024del , CM000670.2:g.117837023_117837024del	GRCh38
NC_000008.10:g.118849262_118849263del , CM000670.1:g.118849262_118849263del	GRCh37
NC_000008.9:g.118918443_118918444del	NCBI36
NG_007455.2:g.279797_279798del , LRG_493:g.279797_279798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.523+85_523+86del
ENST00000378204.7:c.1056+85_1056+86del MANE Select	ENSP00000367446.3:n.1056+85_1056+86del
ENST00000436216.2:c.424+85_424+86del
ENST00000378204.6:c.1056+85_1056+86del	ENSP00000367446.2:n.1056+85_1056+86del
ENST00000436216.1:c.424+85_424+86del
ENST00000437196.1:c.74-1472_74-1471del	ENSP00000407299.1:n.74-1472_74-1471del
NM_000127.2:c.1056+85_1056+86del , LRG_493t1:c.1056+85_1056+86del	NP_000118.2:n.1056+85_1056+86del
NM_000127.3:c.1056+85_1056+86del MANE Select	NP_000118.2:n.1056+85_1056+86del