Canonical Allele Identifier: CA2688347323
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118111431-C-CAA
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111431_118111432insAA , CM000670.2:g.118111431_118111432insAA GRCh38
NC_000008.10:g.119123670_119123671insAA , CM000670.1:g.119123670_119123671insAA GRCh37
NC_000008.9:g.119192851_119192852insAA NCBI36
NG_007455.2:g.5388_5389insTT , LRG_493:g.5388_5389insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-386_-385insTT MANE Select ENSP00000367446.3:n.-386_-385insTT
ENST00000378204.6:c.-386_-385insTT ENSP00000367446.2:n.-386_-385insTT
NM_000127.2:c.-386_-385insTT , LRG_493t1:c.-386_-385insTT NP_000118.2:n.-386_-385insTT
NM_000127.3:c.-386_-385insTT MANE Select NP_000118.2:n.-386_-385insTT
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