Canonical Allele Identifier: CA918350968
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1554601612
gnomAD v4: 8-118111371-AGGGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111372_118111375del , CM000670.2:g.118111372_118111375del GRCh38
NC_000008.10:g.119123611_119123614del , CM000670.1:g.119123611_119123614del GRCh37
NC_000008.9:g.119192792_119192795del NCBI36
NG_007455.2:g.5445_5448del , LRG_493:g.5445_5448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-329_-326del MANE Select ENSP00000367446.3:n.-329_-326del
ENST00000378204.6:c.-329_-326del ENSP00000367446.2:n.-329_-326del
NM_000127.2:c.-329_-326del , LRG_493t1:c.-329_-326del NP_000118.2:n.-329_-326del
NM_000127.3:c.-329_-326del MANE Select NP_000118.2:n.-329_-326del
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