Canonical Allele Identifier: CA1118366837
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1817904969
gnomAD v3: 8-118111602-CTCTT-C
gnomAD v4: 8-118111602-CTCTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111604_118111607del , CM000670.2:g.118111604_118111607del GRCh38
NC_000008.10:g.119123843_119123846del , CM000670.1:g.119123843_119123846del GRCh37
NC_000008.9:g.119193024_119193027del NCBI36
NG_007455.2:g.5214_5217del , LRG_493:g.5214_5217del

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-560_-557del MANE Select ENSP00000367446.3:n.-560_-557del
ENST00000378204.6:c.-560_-557del ENSP00000367446.2:n.-560_-557del
NM_000127.2:c.-560_-557del , LRG_493t1:c.-560_-557del NP_000118.2:n.-560_-557del
NM_000127.3:c.-560_-557del MANE Select NP_000118.2:n.-560_-557del
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