Canonical Allele Identifier: CA2573142839
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1409072
ClinVar RCV Id: RCV001930287
dbSNP Id: rs2129786583
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835535dup , CM000670.2:g.117835535dup GRCh38
NC_000008.10:g.118847774dup , CM000670.1:g.118847774dup GRCh37
NC_000008.9:g.118916955dup NCBI36
NG_007455.2:g.281285dup , LRG_493:g.281285dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.540dup
ENST00000378204.7:c.1073dup MANE Select ENSP00000367446.3:p.Met359AspfsTer12
ENST00000436216.2:c.441dup
ENST00000378204.6:c.1073dup ENSP00000367446.2:p.Met359AspfsTer12
ENST00000436216.1:c.441dup
ENST00000437196.1:c.90dup ENSP00000407299.1:p.Asp31Ter
NM_000127.2:c.1073dup , LRG_493t1:c.1073dup NP_000118.2:p.Met359AspfsTer12
NM_000127.3:c.1073dup MANE Select NP_000118.2:p.Met359AspfsTer12
Search 100 bp 5'
Search 100 bp 3'