Canonical Allele Identifier: CA599370123

Gene: EXT2

Linked Data

• dbSNP Id: rs1307076489
• gnomAD v2: 11-44129285-AT-A
• gnomAD v3: 11-44107735-AT-A
• gnomAD v4: 11-44107735-AT-A
• MyVariant Identifiers: chr11:g.44129286del (hg19) ; chr11:g.44107736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107736del , CM000673.2:g.44107736del	GRCh38
NC_000011.9:g.44129286del , CM000673.1:g.44129286del	GRCh37
NC_000011.8:g.44085862del	NCBI36
NG_007560.1:g.17188del , LRG_494:g.17188del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.24del	ENSP00000342656.3:p.Asn8LysfsTer11
ENST00000395673.8:c.24del	ENSP00000379032.4:p.Asn8LysfsTer11
ENST00000531161.6:n.183del
ENST00000682359.1:c.24del	ENSP00000508226.1:p.Asn8LysfsTer11
ENST00000682711.1:c.-544+11884del	ENSP00000506803.1:n.-544+11884del
ENST00000682815.1:c.24del	ENSP00000507234.1:p.Asn8LysfsTer11
ENST00000682947.1:n.198del
ENST00000682993.1:c.24del	ENSP00000507580.1:p.Asn8LysfsTer11
ENST00000683000.1:c.24del	ENSP00000508361.1:p.Asn8LysfsTer11
ENST00000683299.1:n.441del
ENST00000683870.1:c.24del	ENSP00000507922.1:p.Asn8LysfsTer11
ENST00000683881.1:n.2585del
ENST00000684039.1:c.24del	ENSP00000507677.1:p.Asn8LysfsTer11
ENST00000684124.1:c.24del	ENSP00000508332.1:p.Asn8LysfsTer11
ENST00000684533.1:c.24del	ENSP00000507915.1:p.Asn8LysfsTer11
ENST00000533608.7:c.24del MANE Select	ENSP00000431173.2:p.Asn8LysfsTer11
ENST00000343631.3:c.24del	ENSP00000342656.3:p.Asn8LysfsTer11
ENST00000358681.8:c.24del	ENSP00000351509.4:p.Asn8LysfsTer11
ENST00000395673.7:c.123del	ENSP00000379032.3:p.Asn41LysfsTer11
ENST00000527014.1:c.24del	ENSP00000434716.1:p.Asn8LysfsTer11
ENST00000532479.1:c.24del	ENSP00000433827.1:p.Asn8LysfsTer11
ENST00000533608.5:c.24del	ENSP00000431173.1:p.Asn8LysfsTer11
NM_000401.3:c.123del , LRG_494t1:c.123del	NP_000392.3:p.Asn41LysfsTer11
NM_001178083.1:c.24del	NP_001171554.1:p.Asn8LysfsTer11
NM_207122.1:c.24del , LRG_494t2:c.24del	NP_997005.1:p.Asn8LysfsTer11
XM_011519950.1:c.162del	XP_011518252.1:p.Asn54LysfsTer11
XM_011519951.1:c.63del	XP_011518253.1:p.Asn21LysfsTer11
XM_024448383.1:c.162del	XP_024304151.1:p.Asn54LysfsTer11
NM_001178083.2:c.24del	NP_001171554.1:p.Asn8LysfsTer11
NM_207122.2:c.24del MANE Select	NP_997005.1:p.Asn8LysfsTer11
NM_001178083.3:c.24del	NP_001171554.1:p.Asn8LysfsTer11
NM_001389628.1:c.24del	NP_001376557.1:p.Asn8LysfsTer11
NM_001389630.1:c.24del	NP_001376559.1:p.Asn8LysfsTer11