Canonical Allele Identifier: CA2688347306

Gene: EXT1

Linked Data

• gnomAD v4: 8-118111425-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111425_118111426insA , CM000670.2:g.118111425_118111426insA	GRCh38
NC_000008.10:g.119123664_119123665insA , CM000670.1:g.119123664_119123665insA	GRCh37
NC_000008.9:g.119192845_119192846insA	NCBI36
NG_007455.2:g.5394_5395insT , LRG_493:g.5394_5395insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-380_-379insT MANE Select	ENSP00000367446.3:n.-380_-379insT
ENST00000378204.6:c.-380_-379insT	ENSP00000367446.2:n.-380_-379insT
NM_000127.2:c.-380_-379insT , LRG_493t1:c.-380_-379insT	NP_000118.2:n.-380_-379insT
NM_000127.3:c.-380_-379insT MANE Select	NP_000118.2:n.-380_-379insT