Canonical Allele Identifier: CA2613202509

Gene: EXT2

Linked Data

• gnomAD v4: 11-44127015-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44127019_44127021del , CM000673.2:g.44127019_44127021del	GRCh38
NC_000011.9:g.44148569_44148571del , CM000673.1:g.44148569_44148571del	GRCh37
NC_000011.8:g.44105145_44105147del	NCBI36
NG_007560.1:g.36471_36473del , LRG_494:g.36471_36473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1079+64_1079+66del	ENSP00000342656.3:n.1079+64_1079+66del
ENST00000395673.8:c.1079+64_1079+66del	ENSP00000379032.4:n.1079+64_1079+66del
ENST00000531161.6:n.1238+64_1238+66del
ENST00000682359.1:c.939+2035_939+2037del	ENSP00000508226.1:n.939+2035_939+2037del
ENST00000682711.1:c.-544+31167_-544+31169del	ENSP00000506803.1:n.-544+31167_-544+31169del
ENST00000682815.1:c.1079+64_1079+66del	ENSP00000507234.1:n.1079+64_1079+66del
ENST00000682947.1:n.1253+64_1253+66del
ENST00000682993.1:c.1079+64_1079+66del	ENSP00000507580.1:n.1079+64_1079+66del
ENST00000683000.1:c.1079+64_1079+66del	ENSP00000508361.1:n.1079+64_1079+66del
ENST00000683299.1:n.1496+64_1496+66del
ENST00000683870.1:c.1079+64_1079+66del	ENSP00000507922.1:n.1079+64_1079+66del
ENST00000683881.1:n.3640+64_3640+66del
ENST00000684039.1:c.1079+64_1079+66del	ENSP00000507677.1:n.1079+64_1079+66del
ENST00000684124.1:c.1079+64_1079+66del	ENSP00000508332.1:n.1079+64_1079+66del
ENST00000684533.1:c.744-3026_744-3024del	ENSP00000507915.1:n.744-3026_744-3024del
ENST00000533608.7:c.1079+64_1079+66del MANE Select	ENSP00000431173.2:n.1079+64_1079+66del
ENST00000343631.3:c.1079+64_1079+66del	ENSP00000342656.3:n.1079+64_1079+66del
ENST00000358681.8:c.1079+64_1079+66del	ENSP00000351509.4:n.1079+64_1079+66del
ENST00000395673.7:c.1178+64_1178+66del	ENSP00000379032.3:n.1178+64_1178+66del
ENST00000525559.1:n.53+64_53+66del
ENST00000531161.5:n.256+64_256+66del
ENST00000533608.5:c.1079+64_1079+66del	ENSP00000431173.1:n.1079+64_1079+66del
NM_000401.3:c.1178+64_1178+66del , LRG_494t1:c.1178+64_1178+66del	NP_000392.3:n.1178+64_1178+66del
NM_001178083.1:c.1079+64_1079+66del	NP_001171554.1:n.1079+64_1079+66del
NM_207122.1:c.1079+64_1079+66del , LRG_494t2:c.1079+64_1079+66del	NP_997005.1:n.1079+64_1079+66del
XM_011519950.1:c.1217+64_1217+66del	XP_011518252.1:n.1217+64_1217+66del
XM_011519951.1:c.1118+64_1118+66del	XP_011518253.1:n.1118+64_1118+66del
XM_024448383.1:c.1217+64_1217+66del	XP_024304151.1:n.1217+64_1217+66del
NM_001178083.2:c.1079+64_1079+66del	NP_001171554.1:n.1079+64_1079+66del
NM_207122.2:c.1079+64_1079+66del MANE Select	NP_997005.1:n.1079+64_1079+66del
NM_001178083.3:c.1079+64_1079+66del	NP_001171554.1:n.1079+64_1079+66del
NM_001389628.1:c.1079+64_1079+66del	NP_001376557.1:n.1079+64_1079+66del
NM_001389630.1:c.1079+64_1079+66del	NP_001376559.1:n.1079+64_1079+66del