Canonical Allele Identifier: CA184682732
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs886062641
gnomAD v2: 8-119123936-A-AGGC
gnomAD v3: 8-118111697-A-AGGC
gnomAD v4: 8-118111697-A-AGGC
MyVariant Identifiers: chr8:g.119123942_119123943insGGC (hg19) chr8:g.119123936_119123937insGGC (hg19) chr8:g.118111703_118111704insGGC (hg38) chr8:g.118111697_118111698insGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111714_118111716dup , CM000670.2:g.118111714_118111716dup GRCh38
NC_000008.10:g.119123953_119123955dup , CM000670.1:g.119123953_119123955dup GRCh37
NC_000008.9:g.119193134_119193136dup NCBI36
NG_007455.2:g.5120_5122dup , LRG_493:g.5120_5122dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-654_-652dup MANE Select ENSP00000367446.3:n.-654_-652dup
ENST00000378204.6:c.-654_-652dup ENSP00000367446.2:n.-654_-652dup
NM_000127.2:c.-654_-652dup , LRG_493t1:c.-654_-652dup NP_000118.2:n.-654_-652dup
NM_000127.3:c.-654_-652dup MANE Select NP_000118.2:n.-654_-652dup
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