Canonical Allele Identifier: CA846255997

Gene: EXT1

Linked Data

• dbSNP Id: rs1293194347
• gnomAD v3: 8-118111407-GGCAAGACGAAGTGATT-G
• gnomAD v4: 8-118111407-GGCAAGACGAAGTGATT-G
• MyVariant Identifiers: chr8:g.119123647_119123662del (hg19) ; chr8:g.118111408_118111423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111410_118111425del , CM000670.2:g.118111410_118111425del	GRCh38
NC_000008.10:g.119123649_119123664del , CM000670.1:g.119123649_119123664del	GRCh37
NC_000008.9:g.119192830_119192845del	NCBI36
NG_007455.2:g.5397_5412del , LRG_493:g.5397_5412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-377_-362del MANE Select	ENSP00000367446.3:n.-377_-362del
ENST00000378204.6:c.-377_-362del	ENSP00000367446.2:n.-377_-362del
NM_000127.2:c.-377_-362del , LRG_493t1:c.-377_-362del	NP_000118.2:n.-377_-362del
NM_000127.3:c.-377_-362del MANE Select	NP_000118.2:n.-377_-362del