Canonical Allele Identifier: CA2740976111

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835249_117835253del , CM000670.2:g.117835249_117835253del	GRCh38
NC_000008.10:g.118847488_118847492del , CM000670.1:g.118847488_118847492del	GRCh37
NC_000008.9:g.118916669_118916673del	NCBI36
NG_007455.2:g.281567_281571del , LRG_493:g.281567_281571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+191_631+195del
ENST00000378204.7:c.1164+191_1164+195del MANE Select	ENSP00000367446.3:n.1164+191_1164+195del
ENST00000436216.2:c.532+191_532+195del
ENST00000378204.6:c.1164+191_1164+195del	ENSP00000367446.2:n.1164+191_1164+195del
ENST00000436216.1:c.532+191_532+195del
ENST00000437196.1:c.*55+191_*55+195del	ENSP00000407299.1:n.*55+191_*55+195del
NM_000127.2:c.1164+191_1164+195del , LRG_493t1:c.1164+191_1164+195del	NP_000118.2:n.1164+191_1164+195del
NM_000127.3:c.1164+191_1164+195del MANE Select	NP_000118.2:n.1164+191_1164+195del