Canonical Allele Identifier: CA2548052743
Gene: EXT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110106_118110107del , CM000670.2:g.118110106_118110107del GRCh38
NC_000008.10:g.119122345_119122346del , CM000670.1:g.119122345_119122346del GRCh37
NC_000008.9:g.119191526_119191527del NCBI36
NG_007455.2:g.6716_6717del , LRG_493:g.6716_6717del

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.943_944del MANE Select ENSP00000367446.3:p.Asp315GlnfsTer5
ENST00000436216.2:c.311_312del
ENST00000378204.6:c.943_944del ENSP00000367446.2:p.Asp315GlnfsTer5
ENST00000436216.1:c.311_312del
ENST00000437196.1:c.73+870_73+871del ENSP00000407299.1:n.73+870_73+871del
NM_000127.2:c.943_944del , LRG_493t1:c.943_944del NP_000118.2:p.Asp315GlnfsTer5
NM_000127.3:c.943_944del MANE Select NP_000118.2:p.Asp315GlnfsTer5
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