Canonical Allele Identifier: CA2695210108
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807286del , CM000670.2:g.117807286del GRCh38
NC_000008.10:g.118819525del , CM000670.1:g.118819525del GRCh37
NC_000008.9:g.118888706del NCBI36
NG_007455.2:g.309535del , LRG_493:g.309535del

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1282del
ENST00000378204.7:c.1815del MANE Select ENSP00000367446.3:p.Trp606GlyfsTer15
ENST00000378204.6:c.1815del ENSP00000367446.2:p.Trp606GlyfsTer15
ENST00000437196.1:c.*706del ENSP00000407299.1:n.*706del
NM_000127.2:c.1815del , LRG_493t1:c.1815del NP_000118.2:p.Trp606GlyfsTer15
NM_000127.3:c.1815del MANE Select NP_000118.2:p.Trp606GlyfsTer15
Search 100 bp 5'
Search 100 bp 3'