Canonical Allele Identifier: CA2582341969
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2584734
ClinVar RCV Id: RCV003336687

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837110_117837118del , CM000670.2:g.117837110_117837118del GRCh38
NC_000008.10:g.118849349_118849357del , CM000670.1:g.118849349_118849357del GRCh37
NC_000008.9:g.118918530_118918538del NCBI36
NG_007455.2:g.279705_279713del , LRG_493:g.279705_279713del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.516_523+1del
ENST00000378204.7:c.1049_1056+1del
ENST00000436216.2:c.417_424+1del
ENST00000378204.6:c.1049_1056+1del
ENST00000436216.1:c.417_424+1del
ENST00000437196.1:c.74-1564_74-1556del ENSP00000407299.1:n.74-1564_74-1556del
NM_000127.2:c.1049_1056+1del , LRG_493t1:c.1049_1056+1del
NM_000127.3:c.1049_1056+1del