Canonical Allele Identifier: CA1814090418

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111405_118111406delinsAT , CM000670.2:g.118111405_118111406delinsAT	GRCh38
NC_000008.10:g.119123644_119123645delinsAT , CM000670.1:g.119123644_119123645delinsAT	GRCh37
NC_000008.9:g.119192825_119192826delinsAT	NCBI36
NG_007455.2:g.5414_5415delinsAT , LRG_493:g.5414_5415delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-360_-359delinsAT MANE Select	ENSP00000367446.3:n.-360_-359delinsAT
ENST00000378204.6:c.-360_-359delinsAT	ENSP00000367446.2:n.-360_-359delinsAT
NM_000127.2:c.-360_-359delinsAT , LRG_493t1:c.-360_-359delinsAT	NP_000118.2:n.-360_-359delinsAT
NM_000127.3:c.-360_-359delinsAT MANE Select	NP_000118.2:n.-360_-359delinsAT