Canonical Allele Identifier: CA584341143
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1331566148

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835550_117835557del , CM000670.2:g.117835550_117835557del GRCh38
NC_000008.10:g.118847789_118847796del , CM000670.1:g.118847789_118847796del GRCh37
NC_000008.9:g.118916970_118916977del NCBI36
NG_007455.2:g.281263_281270del , LRG_493:g.281263_281270del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.524-6_525del
ENST00000378204.7:c.1057-6_1058del
ENST00000436216.2:c.425-6_426del
ENST00000378204.6:c.1057-6_1058del
ENST00000436216.1:c.425-6_426del
ENST00000437196.1:c.74-6_75del
NM_000127.2:c.1057-6_1058del , LRG_493t1:c.1057-6_1058del
NM_000127.3:c.1057-6_1058del