Canonical Allele Identifier: CA2695213761

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107824_44107825del , CM000673.2:g.44107824_44107825del	GRCh38
NC_000011.9:g.44129374_44129375del , CM000673.1:g.44129374_44129375del	GRCh37
NC_000011.8:g.44085950_44085951del	NCBI36
NG_007560.1:g.17276_17277del , LRG_494:g.17276_17277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.112_113del	ENSP00000342656.3:p.Ile38CysfsTer17
ENST00000395673.8:c.112_113del	ENSP00000379032.4:p.Ile38CysfsTer17
ENST00000531161.6:n.271_272del
ENST00000682359.1:c.112_113del	ENSP00000508226.1:p.Ile38CysfsTer17
ENST00000682711.1:c.-544+11972_-544+11973del	ENSP00000506803.1:n.-544+11972_-544+11973del
ENST00000682815.1:c.112_113del	ENSP00000507234.1:p.Ile38CysfsTer17
ENST00000682947.1:n.286_287del
ENST00000682993.1:c.112_113del	ENSP00000507580.1:p.Ile38CysfsTer17
ENST00000683000.1:c.112_113del	ENSP00000508361.1:p.Ile38CysfsTer17
ENST00000683299.1:n.529_530del
ENST00000683870.1:c.112_113del	ENSP00000507922.1:p.Ile38CysfsTer17
ENST00000683881.1:n.2673_2674del
ENST00000684039.1:c.112_113del	ENSP00000507677.1:p.Ile38CysfsTer17
ENST00000684124.1:c.112_113del	ENSP00000508332.1:p.Ile38CysfsTer17
ENST00000684533.1:c.112_113del	ENSP00000507915.1:p.Ile38CysfsTer17
ENST00000533608.7:c.112_113del MANE Select	ENSP00000431173.2:p.Ile38CysfsTer17
ENST00000343631.3:c.112_113del	ENSP00000342656.3:p.Ile38CysfsTer17
ENST00000358681.8:c.112_113del	ENSP00000351509.4:p.Ile38CysfsTer17
ENST00000395673.7:c.211_212del	ENSP00000379032.3:p.Ile71CysfsTer17
ENST00000527014.1:c.112_113del	ENSP00000434716.1:p.Ile38CysfsTer17
ENST00000532479.1:c.112_113del	ENSP00000433827.1:p.Ile38CysfsTer?
ENST00000533608.5:c.112_113del	ENSP00000431173.1:p.Ile38CysfsTer17
NM_000401.3:c.211_212del , LRG_494t1:c.211_212del	NP_000392.3:p.Ile71CysfsTer17
NM_001178083.1:c.112_113del	NP_001171554.1:p.Ile38CysfsTer17
NM_207122.1:c.112_113del , LRG_494t2:c.112_113del	NP_997005.1:p.Ile38CysfsTer17
XM_011519950.1:c.250_251del	XP_011518252.1:p.Ile84CysfsTer17
XM_011519951.1:c.151_152del	XP_011518253.1:p.Ile51CysfsTer17
XM_024448383.1:c.250_251del	XP_024304151.1:p.Ile84CysfsTer17
NM_001178083.2:c.112_113del	NP_001171554.1:p.Ile38CysfsTer17
NM_207122.2:c.112_113del MANE Select	NP_997005.1:p.Ile38CysfsTer17
NM_001178083.3:c.112_113del	NP_001171554.1:p.Ile38CysfsTer17
NM_001389628.1:c.112_113del	NP_001376557.1:p.Ile38CysfsTer17
NM_001389630.1:c.112_113del	NP_001376559.1:p.Ile38CysfsTer17