Canonical Allele Identifier: CA2573142838
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372124
ClinVar RCV Id: RCV001872754
dbSNP Id: rs2129786574
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835532dup , CM000670.2:g.117835532dup GRCh38
NC_000008.10:g.118847771dup , CM000670.1:g.118847771dup GRCh37
NC_000008.9:g.118916952dup NCBI36
NG_007455.2:g.281288dup , LRG_493:g.281288dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.543dup
ENST00000378204.7:c.1076dup MANE Select ENSP00000367446.3:p.Met359IlefsTer12
ENST00000436216.2:c.444dup
ENST00000378204.6:c.1076dup ENSP00000367446.2:p.Met359IlefsTer12
ENST00000436216.1:c.444dup
ENST00000437196.1:c.93dup ENSP00000407299.1:p.Ala32CysfsTer13
NM_000127.2:c.1076dup , LRG_493t1:c.1076dup NP_000118.2:p.Met359IlefsTer12
NM_000127.3:c.1076dup MANE Select NP_000118.2:p.Met359IlefsTer12
Search 100 bp 5'
Search 100 bp 3'