Canonical Allele Identifier: CA2781908694

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111386_118111387insAAAAAAAAAAA , CM000670.2:g.118111386_118111387insAAAAAAAAAAA	GRCh38
NC_000008.10:g.119123625_119123626insAAAAAAAAAAA , CM000670.1:g.119123625_119123626insAAAAAAAAAAA	GRCh37
NC_000008.9:g.119192806_119192807insAAAAAAAAAAA	NCBI36
NG_007455.2:g.5442_5443insTTTTTTTTTTT , LRG_493:g.5442_5443insTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-332_-331insTTTTTTTTTTT MANE Select	ENSP00000367446.3:n.-332_-331insTTTTTTTTTTT
ENST00000378204.6:c.-332_-331insTTTTTTTTTTT	ENSP00000367446.2:n.-332_-331insTTTTTTTTTTT
NM_000127.2:c.-332_-331insTTTTTTTTTTT , LRG_493t1:c.-332_-331insTTTTTTTTTTT	NP_000118.2:n.-332_-331insTTTTTTTTTTT
NM_000127.3:c.-332_-331insTTTTTTTTTTT MANE Select	NP_000118.2:n.-332_-331insTTTTTTTTTTT