Canonical Allele Identifier: CA584341123

Gene: EXT1

Linked Data

• dbSNP Id: rs1173017940
• gnomAD v2: 8-118847490-GGGACCTGGGGA-G
• gnomAD v3: 8-117835251-GGGACCTGGGGA-G
• gnomAD v4: 8-117835251-GGGACCTGGGGA-G
• MyVariant Identifiers: chr8:g.118847491_118847501del (hg19) ; chr8:g.117835252_117835262del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835253_117835263del , CM000670.2:g.117835253_117835263del	GRCh38
NC_000008.10:g.118847492_118847502del , CM000670.1:g.118847492_118847502del	GRCh37
NC_000008.9:g.118916673_118916683del	NCBI36
NG_007455.2:g.281558_281568del , LRG_493:g.281558_281568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+182_631+192del
ENST00000378204.7:c.1164+182_1164+192del MANE Select	ENSP00000367446.3:n.1164+182_1164+192del
ENST00000436216.2:c.532+182_532+192del
ENST00000378204.6:c.1164+182_1164+192del	ENSP00000367446.2:n.1164+182_1164+192del
ENST00000436216.1:c.532+182_532+192del
ENST00000437196.1:c.*55+182_*55+192del	ENSP00000407299.1:n.*55+182_*55+192del
NM_000127.2:c.1164+182_1164+192del , LRG_493t1:c.1164+182_1164+192del	NP_000118.2:n.1164+182_1164+192del
NM_000127.3:c.1164+182_1164+192del MANE Select	NP_000118.2:n.1164+182_1164+192del