Canonical Allele Identifier: CA584473401

Gene: EXT1

Linked Data

• dbSNP Id: rs1190777853
• gnomAD v2: 8-119123616-GA-G
• gnomAD v3: 8-118111377-GA-G
• gnomAD v4: 8-118111377-GA-G
• MyVariant Identifiers: chr8:g.119123617del (hg19) ; chr8:g.118111378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111386del , CM000670.2:g.118111386del	GRCh38
NC_000008.10:g.119123625del , CM000670.1:g.119123625del	GRCh37
NC_000008.9:g.119192806del	NCBI36
NG_007455.2:g.5442del , LRG_493:g.5442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-332del MANE Select	ENSP00000367446.3:n.-332del
ENST00000378204.6:c.-332del	ENSP00000367446.2:n.-332del
NM_000127.2:c.-332del , LRG_493t1:c.-332del	NP_000118.2:n.-332del
NM_000127.3:c.-332del MANE Select	NP_000118.2:n.-332del