Canonical Allele Identifier: CA2718163346

Gene: EXT1

Linked Data

• dbSNP Id: rs2129701367

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807283_117807284insGCTTAAGTTTTGCTGATGTGTCA , CM000670.2:g.117807283_117807284insGCTTAAGTTTTGCTGATGTGTCA	GRCh38
NC_000008.10:g.118819522_118819523insGCTTAAGTTTTGCTGATGTGTCA , CM000670.1:g.118819522_118819523insGCTTAAGTTTTGCTGATGTGTCA	GRCh37
NC_000008.9:g.118888703_118888704insGCTTAAGTTTTGCTGATGTGTCA	NCBI36
NG_007455.2:g.309536_309537insTGACACATCAGCAAAACTTAAGC , LRG_493:g.309536_309537insTGACACATCAGCAAAACTTAAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.1283_1284insTGACACATCAGCAAAACTTAAGC
ENST00000378204.7:c.1816_1817insTGACACATCAGCAAAACTTAAGC MANE Select	ENSP00000367446.3:p.Trp606LeufsTer23
ENST00000378204.6:c.1816_1817insTGACACATCAGCAAAACTTAAGC	ENSP00000367446.2:p.Trp606LeufsTer23
ENST00000437196.1:c.*707_*708insTGACACATCAGCAAAACTTAAGC	ENSP00000407299.1:n.*707_*708insTGACACATC...
NM_000127.2:c.1816_1817insTGACACATCAGCAAAACTTAAGC , LRG_493t1:c.1816_1817insTGACACATCAGCAAAACTTAAGC	NP_000118.2:p.Trp606LeufsTer23
NM_000127.3:c.1816_1817insTGACACATCAGCAAAACTTAAGC MANE Select	NP_000118.2:p.Trp606LeufsTer23