Canonical Allele Identifier: CA2688346124

Gene: EXT1

Linked Data

• gnomAD v4: 8-117819897-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819899del , CM000670.2:g.117819899del	GRCh38
NC_000008.10:g.118832138del , CM000670.1:g.118832138del	GRCh37
NC_000008.9:g.118901319del	NCBI36
NG_007455.2:g.296922del , LRG_493:g.296922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.885-104del
ENST00000378204.7:c.1418-104del MANE Select	ENSP00000367446.3:n.1418-104del
ENST00000378204.6:c.1418-104del	ENSP00000367446.2:n.1418-104del
ENST00000437196.1:c.*309-104del	ENSP00000407299.1:n.*309-104del
NM_000127.2:c.1418-104del , LRG_493t1:c.1418-104del	NP_000118.2:n.1418-104del
NM_000127.3:c.1418-104del MANE Select	NP_000118.2:n.1418-104del