Canonical Allele Identifier: CA2740976108

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835236_117835237del , CM000670.2:g.117835236_117835237del	GRCh38
NC_000008.10:g.118847475_118847476del , CM000670.1:g.118847475_118847476del	GRCh37
NC_000008.9:g.118916656_118916657del	NCBI36
NG_007455.2:g.281583_281584del , LRG_493:g.281583_281584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+207_631+208del
ENST00000378204.7:c.1164+207_1164+208del MANE Select	ENSP00000367446.3:n.1164+207_1164+208del
ENST00000436216.2:c.532+207_532+208del
ENST00000378204.6:c.1164+207_1164+208del	ENSP00000367446.2:n.1164+207_1164+208del
ENST00000436216.1:c.532+207_532+208del
ENST00000437196.1:c.*55+207_*55+208del	ENSP00000407299.1:n.*55+207_*55+208del
NM_000127.2:c.1164+207_1164+208del , LRG_493t1:c.1164+207_1164+208del	NP_000118.2:n.1164+207_1164+208del
NM_000127.3:c.1164+207_1164+208del MANE Select	NP_000118.2:n.1164+207_1164+208del