Canonical Allele Identifier: CA1813956681

Gene: EXT1

Linked Data

• ClinVar Variation Id: 941386
• ClinVar RCV Id: RCV001211165
• dbSNP Id: rs1812173037

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835460_117835461del , CM000670.2:g.117835460_117835461del	GRCh38
NC_000008.10:g.118847699_118847700del , CM000670.1:g.118847699_118847700del	GRCh37
NC_000008.9:g.118916880_118916881del	NCBI36
NG_007455.2:g.281363_281364del , LRG_493:g.281363_281364del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.618_619del
ENST00000378204.7:c.1151_1152del MANE Select	ENSP00000367446.3:p.Arg384IlefsTer16
ENST00000436216.2:c.519_520del
ENST00000378204.6:c.1151_1152del	ENSP00000367446.2:p.Arg384IlefsTer16
ENST00000436216.1:c.519_520del
ENST00000437196.1:c.*42_*43del	ENSP00000407299.1:n.*42_*43del
NM_000127.2:c.1151_1152del , LRG_493t1:c.1151_1152del	NP_000118.2:p.Arg384IlefsTer16
NM_000127.3:c.1151_1152del MANE Select	NP_000118.2:p.Arg384IlefsTer16