Canonical Allele Identifier: CA2740976109

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835239_117835240insC , CM000670.2:g.117835239_117835240insC	GRCh38
NC_000008.10:g.118847478_118847479insC , CM000670.1:g.118847478_118847479insC	GRCh37
NC_000008.9:g.118916659_118916660insC	NCBI36
NG_007455.2:g.281580_281581insG , LRG_493:g.281580_281581insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+204_631+205insG
ENST00000378204.7:c.1164+204_1164+205insG MANE Select	ENSP00000367446.3:n.1164+204_1164+205insG
ENST00000436216.2:c.532+204_532+205insG
ENST00000378204.6:c.1164+204_1164+205insG	ENSP00000367446.2:n.1164+204_1164+205insG
ENST00000436216.1:c.532+204_532+205insG
ENST00000437196.1:c.*55+204_*55+205insG	ENSP00000407299.1:n.*55+204_*55+205insG
NM_000127.2:c.1164+204_1164+205insG , LRG_493t1:c.1164+204_1164+205insG	NP_000118.2:n.1164+204_1164+205insG
NM_000127.3:c.1164+204_1164+205insG MANE Select	NP_000118.2:n.1164+204_1164+205insG