Canonical Allele Identifier: CA1118366761
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1817901142

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111377dup , CM000670.2:g.118111377dup GRCh38
NC_000008.10:g.119123616dup , CM000670.1:g.119123616dup GRCh37
NC_000008.9:g.119192797dup NCBI36
NG_007455.2:g.5443dup , LRG_493:g.5443dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-331dup MANE Select ENSP00000367446.3:n.-331dup
ENST00000378204.6:c.-331dup ENSP00000367446.2:n.-331dup
NM_000127.2:c.-331dup , LRG_493t1:c.-331dup NP_000118.2:n.-331dup
NM_000127.3:c.-331dup MANE Select NP_000118.2:n.-331dup