Canonical Allele Identifier: CA2781902059

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835563_117835564insAAAAAAAAAAA , CM000670.2:g.117835563_117835564insAAAAAAAAAAA	GRCh38
NC_000008.10:g.118847802_118847803insAAAAAAAAAAA , CM000670.1:g.118847802_118847803insAAAAAAAAAAA	GRCh37
NC_000008.9:g.118916983_118916984insAAAAAAAAAAA	NCBI36
NG_007455.2:g.281262_281263insTTTTTTTTTTT , LRG_493:g.281262_281263insTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.524-7_524-6insTTTTTTTTTTT
ENST00000378204.7:c.1057-7_1057-6insTTTTTTTTTTT MANE Select	ENSP00000367446.3:n.1057-7_1057-6insTTTTTTTTTTT
ENST00000436216.2:c.425-7_425-6insTTTTTTTTTTT
ENST00000378204.6:c.1057-7_1057-6insTTTTTTTTTTT	ENSP00000367446.2:n.1057-7_1057-6insTTTTTTTTTTT
ENST00000436216.1:c.425-7_425-6insTTTTTTTTTTT
ENST00000437196.1:c.74-7_74-6insTTTTTTTTTTT	ENSP00000407299.1:n.74-7_74-6insTTTTTTTTTTT
NM_000127.2:c.1057-7_1057-6insTTTTTTTTTTT , LRG_493t1:c.1057-7_1057-6insTTTTTTTTTTT	NP_000118.2:n.1057-7_1057-6insTTTTTTTTTTT
NM_000127.3:c.1057-7_1057-6insTTTTTTTTTTT MANE Select	NP_000118.2:n.1057-7_1057-6insTTTTTTTTTTT