Canonical Allele Identifier: CA1814090421

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111407_118111423delinsGGCAAGACGAAGTGATT , CM000670.2:g.118111407_118111423delinsGGCAAGACGAAGTGATT	GRCh38
NC_000008.10:g.119123646_119123662delinsGGCAAGACGAAGTGATT , CM000670.1:g.119123646_119123662delinsGGCAAGACGAAGTGATT	GRCh37
NC_000008.9:g.119192827_119192843delinsGGCAAGACGAAGTGATT	NCBI36
NG_007455.2:g.5397_5413delinsAATCACTTCGTCTTGCC , LRG_493:g.5397_5413delinsAATCACTTCGTCTTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-377_-361delinsAATCACTTCGTCTTGCC MANE Select	ENSP00000367446.3:n.-377_-361delinsAATCACTTCGTCTTGCC
ENST00000378204.6:c.-377_-361delinsAATCACTTCGTCTTGCC	ENSP00000367446.2:n.-377_-361delinsAATCACTTCGTCTTGCC
NM_000127.2:c.-377_-361delinsAATCACTTCGTCTTGCC , LRG_493t1:c.-377_-361delinsAATCACTTCGTCTTGCC	NP_000118.2:n.-377_-361delinsAATCACTTCGTCTTGCC
NM_000127.3:c.-377_-361delinsAATCACTTCGTCTTGCC MANE Select	NP_000118.2:n.-377_-361delinsAATCACTTCGTCTTGCC