Canonical Allele Identifier: CA2688346867

Gene: EXT1

Linked Data

• gnomAD v4: 8-117837260-GACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837262_117837264del , CM000670.2:g.117837262_117837264del	GRCh38
NC_000008.10:g.118849501_118849503del , CM000670.1:g.118849501_118849503del	GRCh37
NC_000008.9:g.118918682_118918684del	NCBI36
NG_007455.2:g.279557_279559del , LRG_493:g.279557_279559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.430-62_430-60del
ENST00000378204.7:c.963-62_963-60del MANE Select	ENSP00000367446.3:n.963-62_963-60del
ENST00000436216.2:c.331-62_331-60del
ENST00000378204.6:c.963-62_963-60del	ENSP00000367446.2:n.963-62_963-60del
ENST00000436216.1:c.331-62_331-60del
ENST00000437196.1:c.74-1712_74-1710del	ENSP00000407299.1:n.74-1712_74-1710del
NM_000127.2:c.963-62_963-60del , LRG_493t1:c.963-62_963-60del	NP_000118.2:n.963-62_963-60del
NM_000127.3:c.963-62_963-60del MANE Select	NP_000118.2:n.963-62_963-60del