Canonical Allele Identifier: CA2688347632
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111771-GCTTCGCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111772_118111778del , CM000670.2:g.118111772_118111778del GRCh38
NC_000008.10:g.119124011_119124017del , CM000670.1:g.119124011_119124017del GRCh37
NC_000008.9:g.119193192_119193198del NCBI36
NG_007455.2:g.5042_5048del , LRG_493:g.5042_5048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-732_-726del MANE Select ENSP00000367446.3:n.-732_-726del
ENST00000378204.6:c.-732_-726del ENSP00000367446.2:n.-732_-726del
NM_000127.2:c.-732_-726del , LRG_493t1:c.-732_-726del NP_000118.2:n.-732_-726del
NM_000127.3:c.-732_-726del MANE Select NP_000118.2:n.-732_-726del
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