Canonical Allele Identifier: CA1813949898

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819804_117819807delinsAAAG , CM000670.2:g.117819804_117819807delinsAAAG	GRCh38
NC_000008.10:g.118832043_118832046delinsAAAG , CM000670.1:g.118832043_118832046delinsAAAG	GRCh37
NC_000008.9:g.118901224_118901227delinsAAAG	NCBI36
NG_007455.2:g.297013_297016delinsCTTT , LRG_493:g.297013_297016delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.885-13_885-10delinsCTTT
ENST00000378204.7:c.1418-13_1418-10delinsCTTT MANE Select	ENSP00000367446.3:n.1418-13_1418-10delinsCTTT
ENST00000378204.6:c.1418-13_1418-10delinsCTTT	ENSP00000367446.2:n.1418-13_1418-10delinsCTTT
ENST00000437196.1:c.*309-13_*309-10delinsCTTT	ENSP00000407299.1:n.*309-13_*309-10delinsCTTT
NM_000127.2:c.1418-13_1418-10delinsCTTT , LRG_493t1:c.1418-13_1418-10delinsCTTT	NP_000118.2:n.1418-13_1418-10delinsCTTT
NM_000127.3:c.1418-13_1418-10delinsCTTT MANE Select	NP_000118.2:n.1418-13_1418-10delinsCTTT