Canonical Allele Identifier: CA2781902057

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835563_117835564insAAAAAAA , CM000670.2:g.117835563_117835564insAAAAAAA	GRCh38
NC_000008.10:g.118847802_118847803insAAAAAAA , CM000670.1:g.118847802_118847803insAAAAAAA	GRCh37
NC_000008.9:g.118916983_118916984insAAAAAAA	NCBI36
NG_007455.2:g.281262_281263insTTTTTTT , LRG_493:g.281262_281263insTTTTTTT

Transcript Alleles

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