Canonical Allele Identifier: CA2781908699
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111429_118111432del , CM000670.2:g.118111429_118111432del GRCh38
NC_000008.10:g.119123668_119123671del , CM000670.1:g.119123668_119123671del GRCh37
NC_000008.9:g.119192849_119192852del NCBI36
NG_007455.2:g.5389_5392del , LRG_493:g.5389_5392del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-385_-382del MANE Select ENSP00000367446.3:n.-385_-382del
ENST00000378204.6:c.-385_-382del ENSP00000367446.2:n.-385_-382del
NM_000127.2:c.-385_-382del , LRG_493t1:c.-385_-382del NP_000118.2:n.-385_-382del
NM_000127.3:c.-385_-382del MANE Select NP_000118.2:n.-385_-382del