Canonical Allele Identifier: CA2695210043

Gene: EXT1

Linked Data

• ClinVar Variation Id: 2691899
• ClinVar RCV Id: RCV003494096

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837190del , CM000670.2:g.117837190del	GRCh38
NC_000008.10:g.118849429del , CM000670.1:g.118849429del	GRCh37
NC_000008.9:g.118918610del	NCBI36
NG_007455.2:g.279632del , LRG_493:g.279632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.443del
ENST00000378204.7:c.976del MANE Select	ENSP00000367446.3:p.Glu326LysfsTer?
ENST00000436216.2:c.344del
ENST00000378204.6:c.976del	ENSP00000367446.2:p.Glu326LysfsTer?
ENST00000436216.1:c.344del
ENST00000437196.1:c.74-1637del	ENSP00000407299.1:n.74-1637del
NM_000127.2:c.976del , LRG_493t1:c.976del	NP_000118.2:p.Glu326LysfsTer?
NM_000127.3:c.976del MANE Select	NP_000118.2:p.Glu326LysfsTer?