Canonical Allele Identifier: CA937439295

Gene: EXT2

Linked Data

• gnomAD v3: 11-44126859-AGGC-A
• gnomAD v4: 11-44126859-AGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126860_44126862del , CM000673.2:g.44126860_44126862del	GRCh38
NC_000011.9:g.44148410_44148412del , CM000673.1:g.44148410_44148412del	GRCh37
NC_000011.8:g.44104986_44104988del	NCBI36
NG_007560.1:g.36312_36314del , LRG_494:g.36312_36314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.984_986del	ENSP00000342656.3:p.Ala329del
ENST00000395673.8:c.984_986del	ENSP00000379032.4:p.Ala329del
ENST00000531161.6:n.1143_1145del
ENST00000682359.1:c.939+1876_939+1878del	ENSP00000508226.1:n.939+1876_939+1878del
ENST00000682711.1:c.-544+31008_-544+31010del	ENSP00000506803.1:n.-544+31008_-544+31010del
ENST00000682815.1:c.984_986del	ENSP00000507234.1:p.Ala329del
ENST00000682947.1:n.1158_1160del
ENST00000682993.1:c.984_986del	ENSP00000507580.1:p.Ala329del
ENST00000683000.1:c.984_986del	ENSP00000508361.1:p.Ala329del
ENST00000683299.1:n.1401_1403del
ENST00000683870.1:c.984_986del	ENSP00000507922.1:p.Ala329del
ENST00000683881.1:n.3545_3547del
ENST00000684039.1:c.984_986del	ENSP00000507677.1:p.Ala329del
ENST00000684124.1:c.984_986del	ENSP00000508332.1:p.Ala329del
ENST00000684533.1:c.744-3185_744-3183del	ENSP00000507915.1:n.744-3185_744-3183del
ENST00000533608.7:c.984_986del MANE Select	ENSP00000431173.2:p.Ala329del
ENST00000343631.3:c.984_986del	ENSP00000342656.3:p.Ala329del
ENST00000358681.8:c.984_986del	ENSP00000351509.4:p.Ala329del
ENST00000395673.7:c.1083_1085del	ENSP00000379032.3:p.Ala362del
ENST00000531161.5:n.161_163del
ENST00000533608.5:c.984_986del	ENSP00000431173.1:p.Ala329del
NM_000401.3:c.1083_1085del , LRG_494t1:c.1083_1085del	NP_000392.3:p.Ala362del
NM_001178083.1:c.984_986del	NP_001171554.1:p.Ala329del
NM_207122.1:c.984_986del , LRG_494t2:c.984_986del	NP_997005.1:p.Ala329del
XM_011519950.1:c.1122_1124del	XP_011518252.1:p.Ala375del
XM_011519951.1:c.1023_1025del	XP_011518253.1:p.Ala342del
XM_024448383.1:c.1122_1124del	XP_024304151.1:p.Ala375del
NM_001178083.2:c.984_986del	NP_001171554.1:p.Ala329del
NM_207122.2:c.984_986del MANE Select	NP_997005.1:p.Ala329del
NM_001178083.3:c.984_986del	NP_001171554.1:p.Ala329del
NM_001389628.1:c.984_986del	NP_001376557.1:p.Ala329del
NM_001389630.1:c.984_986del	NP_001376559.1:p.Ala329del