Canonical Allele Identifier: CA598980709

Gene: EXT2

Linked Data

• dbSNP Id: rs1565203521
• gnomAD v2: 11-44146118-ATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATAC-A
• gnomAD v3: 11-44124568-ATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATAC-A
• gnomAD v4: 11-44124568-ATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATAC-A
• MyVariant Identifiers: chr11:g.44146119_44146196del (hg19) ; chr11:g.44124569_44124646del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124570_44124647del , CM000673.2:g.44124570_44124647del	GRCh38
NC_000011.9:g.44146120_44146197del , CM000673.1:g.44146120_44146197del	GRCh37
NC_000011.8:g.44102696_44102773del	NCBI36
NG_007560.1:g.34022_34099del , LRG_494:g.34022_34099del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.744-219_744-142del	ENSP00000342656.3:n.744-219_744-142del
ENST00000395673.8:c.744-219_744-142del	ENSP00000379032.4:n.744-219_744-142del
ENST00000531161.6:n.903-219_903-142del
ENST00000682359.1:c.744-219_744-142del	ENSP00000508226.1:n.744-219_744-142del
ENST00000682711.1:c.-544+28718_-544+28795del	ENSP00000506803.1:n.-544+28718_-544+28795del
ENST00000682815.1:c.744-219_744-142del	ENSP00000507234.1:n.744-219_744-142del
ENST00000682947.1:n.918-219_918-142del
ENST00000682993.1:c.744-219_744-142del	ENSP00000507580.1:n.744-219_744-142del
ENST00000683000.1:c.744-219_744-142del	ENSP00000508361.1:n.744-219_744-142del
ENST00000683299.1:n.1161-219_1161-142del
ENST00000683870.1:c.744-219_744-142del	ENSP00000507922.1:n.744-219_744-142del
ENST00000683881.1:n.3305-219_3305-142del
ENST00000684039.1:c.744-219_744-142del	ENSP00000507677.1:n.744-219_744-142del
ENST00000684124.1:c.744-219_744-142del	ENSP00000508332.1:n.744-219_744-142del
ENST00000684533.1:c.744-5475_744-5398del	ENSP00000507915.1:n.744-5475_744-5398del
ENST00000533608.7:c.744-219_744-142del MANE Select	ENSP00000431173.2:n.744-219_744-142del
ENST00000343631.3:c.744-219_744-142del	ENSP00000342656.3:n.744-219_744-142del
ENST00000358681.8:c.744-219_744-142del	ENSP00000351509.4:n.744-219_744-142del
ENST00000395673.7:c.843-219_843-142del	ENSP00000379032.3:n.843-219_843-142del
ENST00000533608.5:c.744-219_744-142del	ENSP00000431173.1:n.744-219_744-142del
NM_000401.3:c.843-219_843-142del , LRG_494t1:c.843-219_843-142del	NP_000392.3:n.843-219_843-142del
NM_001178083.1:c.744-219_744-142del	NP_001171554.1:n.744-219_744-142del
NM_207122.1:c.744-219_744-142del , LRG_494t2:c.744-219_744-142del	NP_997005.1:n.744-219_744-142del
XM_011519950.1:c.882-219_882-142del	XP_011518252.1:n.882-219_882-142del
XM_011519951.1:c.783-219_783-142del	XP_011518253.1:n.783-219_783-142del
XM_024448383.1:c.882-219_882-142del	XP_024304151.1:n.882-219_882-142del
NM_001178083.2:c.744-219_744-142del	NP_001171554.1:n.744-219_744-142del
NM_207122.2:c.744-219_744-142del MANE Select	NP_997005.1:n.744-219_744-142del
NM_001178083.3:c.744-219_744-142del	NP_001171554.1:n.744-219_744-142del
NM_001389628.1:c.744-219_744-142del	NP_001376557.1:n.744-219_744-142del
NM_001389630.1:c.744-219_744-142del	NP_001376559.1:n.744-219_744-142del