Canonical Allele Identifier: CA2688347283
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111402_118111403insG , CM000670.2:g.118111402_118111403insG GRCh38
NC_000008.10:g.119123641_119123642insG , CM000670.1:g.119123641_119123642insG GRCh37
NC_000008.9:g.119192822_119192823insG NCBI36
NG_007455.2:g.5417_5418insC , LRG_493:g.5417_5418insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-357_-356insC MANE Select ENSP00000367446.3:n.-357_-356insC
ENST00000378204.6:c.-357_-356insC ENSP00000367446.2:n.-357_-356insC
NM_000127.2:c.-357_-356insC , LRG_493t1:c.-357_-356insC NP_000118.2:n.-357_-356insC
NM_000127.3:c.-357_-356insC MANE Select NP_000118.2:n.-357_-356insC