Canonical Allele Identifier: CA2740976112

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835256_117835260del , CM000670.2:g.117835256_117835260del	GRCh38
NC_000008.10:g.118847495_118847499del , CM000670.1:g.118847495_118847499del	GRCh37
NC_000008.9:g.118916676_118916680del	NCBI36
NG_007455.2:g.281560_281564del , LRG_493:g.281560_281564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+184_631+188del
ENST00000378204.7:c.1164+184_1164+188del MANE Select	ENSP00000367446.3:n.1164+184_1164+188del
ENST00000436216.2:c.532+184_532+188del
ENST00000378204.6:c.1164+184_1164+188del	ENSP00000367446.2:n.1164+184_1164+188del
ENST00000436216.1:c.532+184_532+188del
ENST00000437196.1:c.*55+184_*55+188del	ENSP00000407299.1:n.*55+184_*55+188del
NM_000127.2:c.1164+184_1164+188del , LRG_493t1:c.1164+184_1164+188del	NP_000118.2:n.1164+184_1164+188del
NM_000127.3:c.1164+184_1164+188del MANE Select	NP_000118.2:n.1164+184_1164+188del