Canonical Allele Identifier: CA846255973

Gene: EXT1

Linked Data

• dbSNP Id: rs1157656405
• gnomAD v4: 8-118111364-AAGAG-A
• MyVariant Identifiers: chr8:g.119123604_119123607del (hg19) ; chr8:g.118111365_118111368del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111369_118111372del , CM000670.2:g.118111369_118111372del	GRCh38
NC_000008.10:g.119123608_119123611del , CM000670.1:g.119123608_119123611del	GRCh37
NC_000008.9:g.119192789_119192792del	NCBI36
NG_007455.2:g.5452_5455del , LRG_493:g.5452_5455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-322_-319del MANE Select	ENSP00000367446.3:n.-322_-319del
ENST00000378204.6:c.-322_-319del	ENSP00000367446.2:n.-322_-319del
NM_000127.2:c.-322_-319del , LRG_493t1:c.-322_-319del	NP_000118.2:n.-322_-319del
NM_000127.3:c.-322_-319del MANE Select	NP_000118.2:n.-322_-319del