Canonical Allele Identifier: CA1967882701

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44125004_44125014delinsTCTCGCAAAGG , CM000673.2:g.44125004_44125014delinsTCTCGCAAAGG	GRCh38
NC_000011.9:g.44146554_44146564delinsTCTCGCAAAGG , CM000673.1:g.44146554_44146564delinsTCTCGCAAAGG	GRCh37
NC_000011.8:g.44103130_44103140delinsTCTCGCAAAGG	NCBI36
NG_007560.1:g.34456_34466delinsTCTCGCAAAGG , LRG_494:g.34456_34466delinsTCTCGCAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000342656.3:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000395673.8:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000379032.4:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000531161.6:n.1098+20_1098+30delinsTCTCGCAAAGG
ENST00000682359.1:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000508226.1:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000682711.1:c.-544+29152_-544+29162delinsTCTCGCAAAGG	ENSP00000506803.1:n.-544+29152_-544+29162delinsTCTCGCAAAGG
ENST00000682815.1:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000507234.1:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000682947.1:n.1113+20_1113+30delinsTCTCGCAAAGG
ENST00000682993.1:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000507580.1:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000683000.1:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000508361.1:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000683299.1:n.1356+20_1356+30delinsTCTCGCAAAGG
ENST00000683870.1:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000507922.1:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000683881.1:n.3500+20_3500+30delinsTCTCGCAAAGG
ENST00000684039.1:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000507677.1:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000684124.1:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000508332.1:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000684533.1:c.744-5041_744-5031delinsTCTCGCAAAGG	ENSP00000507915.1:n.744-5041_744-5031delinsTCTCGCAAAGG
ENST00000533608.7:c.939+20_939+30delinsTCTCGCAAAGG MANE Select	ENSP00000431173.2:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000343631.3:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000342656.3:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000358681.8:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000351509.4:n.939+20_939+30delinsTCTCGCAAAGG
ENST00000395673.7:c.1038+20_1038+30delinsTCTCGCAAAGG	ENSP00000379032.3:n.1038+20_1038+30delinsTCTCGCAAAGG
ENST00000531161.5:n.116+20_116+30delinsTCTCGCAAAGG
ENST00000533608.5:c.939+20_939+30delinsTCTCGCAAAGG	ENSP00000431173.1:n.939+20_939+30delinsTCTCGCAAAGG
NM_000401.3:c.1038+20_1038+30delinsTCTCGCAAAGG , LRG_494t1:c.1038+20_1038+30delinsTCTCGCAAAGG	NP_000392.3:n.1038+20_1038+30delinsTCTCGCAAAGG
NM_001178083.1:c.939+20_939+30delinsTCTCGCAAAGG	NP_001171554.1:n.939+20_939+30delinsTCTCGCAAAGG
NM_207122.1:c.939+20_939+30delinsTCTCGCAAAGG , LRG_494t2:c.939+20_939+30delinsTCTCGCAAAGG	NP_997005.1:n.939+20_939+30delinsTCTCGCAAAGG
XM_011519950.1:c.1077+20_1077+30delinsTCTCGCAAAGG	XP_011518252.1:n.1077+20_1077+30delinsTCTCGCAAAGG
XM_011519951.1:c.978+20_978+30delinsTCTCGCAAAGG	XP_011518253.1:n.978+20_978+30delinsTCTCGCAAAGG
XM_024448383.1:c.1077+20_1077+30delinsTCTCGCAAAGG	XP_024304151.1:n.1077+20_1077+30delinsTCTCGCAAAGG
NM_001178083.2:c.939+20_939+30delinsTCTCGCAAAGG	NP_001171554.1:n.939+20_939+30delinsTCTCGCAAAGG
NM_207122.2:c.939+20_939+30delinsTCTCGCAAAGG MANE Select	NP_997005.1:n.939+20_939+30delinsTCTCGCAAAGG
NM_001178083.3:c.939+20_939+30delinsTCTCGCAAAGG	NP_001171554.1:n.939+20_939+30delinsTCTCGCAAAGG
NM_001389628.1:c.939+20_939+30delinsTCTCGCAAAGG	NP_001376557.1:n.939+20_939+30delinsTCTCGCAAAGG
NM_001389630.1:c.939+20_939+30delinsTCTCGCAAAGG	NP_001376559.1:n.939+20_939+30delinsTCTCGCAAAGG