Canonical Allele Identifier: CA2544988070

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807400_117807401insTGAACAC , CM000670.2:g.117807400_117807401insTGAACAC	GRCh38
NC_000008.10:g.118819639_118819640insTGAACAC , CM000670.1:g.118819639_118819640insTGAACAC	GRCh37
NC_000008.9:g.118888820_118888821insTGAACAC	NCBI36
NG_007455.2:g.309419_309420insGTGTTCA , LRG_493:g.309419_309420insGTGTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1190-24_1190-23insGTGTTCA
ENST00000378204.7:c.1723-24_1723-23insGTGTTCA MANE Select	ENSP00000367446.3:n.1723-24_1723-23insGTGTTCA
ENST00000378204.6:c.1723-24_1723-23insGTGTTCA	ENSP00000367446.2:n.1723-24_1723-23insGTGTTCA
ENST00000437196.1:c.*614-24_*614-23insGTGTTCA	ENSP00000407299.1:n.*614-24_*614-23insGTGTTCA
NM_000127.2:c.1723-24_1723-23insGTGTTCA , LRG_493t1:c.1723-24_1723-23insGTGTTCA	NP_000118.2:n.1723-24_1723-23insGTGTTCA
NM_000127.3:c.1723-24_1723-23insGTGTTCA MANE Select	NP_000118.2:n.1723-24_1723-23insGTGTTCA