Canonical Allele Identifier: CA846256146
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1248868192
gnomAD v3: 8-118111694-T-TGGAGGC
gnomAD v4: 8-118111694-T-TGGAGGC
MyVariant Identifiers: chr8:g.119123933_119123934insGGAGGC (hg19) chr8:g.118111694_118111695insGGAGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111697_118111702dup , CM000670.2:g.118111697_118111702dup GRCh38
NC_000008.10:g.119123936_119123941dup , CM000670.1:g.119123936_119123941dup GRCh37
NC_000008.9:g.119193117_119193122dup NCBI36
NG_007455.2:g.5120_5125dup , LRG_493:g.5120_5125dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-654_-649dup MANE Select ENSP00000367446.3:n.-654_-649dup
ENST00000378204.6:c.-654_-649dup ENSP00000367446.2:n.-654_-649dup
NM_000127.2:c.-654_-649dup , LRG_493t1:c.-654_-649dup NP_000118.2:n.-654_-649dup
NM_000127.3:c.-654_-649dup MANE Select NP_000118.2:n.-654_-649dup
Search 100 bp 5'
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