Canonical Allele Identifier: CA2739268962

Gene: EXT1

Linked Data

• ClinVar Variation Id: 2841282
• ClinVar RCV Id: RCV003604723

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835543_117835544delinsAT , CM000670.2:g.117835543_117835544delinsAT	GRCh38
NC_000008.10:g.118847782_118847783delinsAT , CM000670.1:g.118847782_118847783delinsAT	GRCh37
NC_000008.9:g.118916963_118916964delinsAT	NCBI36
NG_007455.2:g.281276_281277delinsAT , LRG_493:g.281276_281277delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.531_532delinsAT
ENST00000378204.7:c.1064_1065delinsAT MANE Select	ENSP00000367446.3:p.Cys355Tyr
ENST00000436216.2:c.432_433delinsAT
ENST00000378204.6:c.1064_1065delinsAT	ENSP00000367446.2:p.Cys355Tyr
ENST00000436216.1:c.432_433delinsAT
ENST00000437196.1:c.81_82delinsAT	ENSP00000407299.1:p.Arg28Cys
NM_000127.2:c.1064_1065delinsAT , LRG_493t1:c.1064_1065delinsAT	NP_000118.2:p.Cys355Tyr
NM_000127.3:c.1064_1065delinsAT MANE Select	NP_000118.2:p.Cys355Tyr