Canonical Allele Identifier: CA846255992
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1323578487
MyVariant Identifiers: chr8:g.119123645del (hg19) chr8:g.118111406del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111406del , CM000670.2:g.118111406del GRCh38
NC_000008.10:g.119123645del , CM000670.1:g.119123645del GRCh37
NC_000008.9:g.119192826del NCBI36
NG_007455.2:g.5414del , LRG_493:g.5414del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-360del MANE Select ENSP00000367446.3:n.-360del
ENST00000378204.6:c.-360del ENSP00000367446.2:n.-360del
NM_000127.2:c.-360del , LRG_493t1:c.-360del NP_000118.2:n.-360del
NM_000127.3:c.-360del MANE Select NP_000118.2:n.-360del
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