Canonical Allele Identifier: CA2552106398

Gene: EXT1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807413_117807415del , CM000670.2:g.117807413_117807415del	GRCh38
NC_000008.10:g.118819652_118819654del , CM000670.1:g.118819652_118819654del	GRCh37
NC_000008.9:g.118888833_118888835del	NCBI36
NG_007455.2:g.309405_309407del , LRG_493:g.309405_309407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1190-38_1190-36del
ENST00000378204.7:c.1723-38_1723-36del MANE Select	ENSP00000367446.3:n.1723-38_1723-36del
ENST00000378204.6:c.1723-38_1723-36del	ENSP00000367446.2:n.1723-38_1723-36del
ENST00000437196.1:c.*614-38_*614-36del	ENSP00000407299.1:n.*614-38_*614-36del
NM_000127.2:c.1723-38_1723-36del , LRG_493t1:c.1723-38_1723-36del	NP_000118.2:n.1723-38_1723-36del
NM_000127.3:c.1723-38_1723-36del MANE Select	NP_000118.2:n.1723-38_1723-36del