Canonical Allele Identifier: CA1813949950

Gene: EXT1

Linked Data

• dbSNP Id: rs1811895743

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819921_117819923del , CM000670.2:g.117819921_117819923del	GRCh38
NC_000008.10:g.118832160_118832162del , CM000670.1:g.118832160_118832162del	GRCh37
NC_000008.9:g.118901341_118901343del	NCBI36
NG_007455.2:g.296900_296902del , LRG_493:g.296900_296902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.885-126_885-124del
ENST00000378204.7:c.1418-126_1418-124del MANE Select	ENSP00000367446.3:n.1418-126_1418-124del
ENST00000378204.6:c.1418-126_1418-124del	ENSP00000367446.2:n.1418-126_1418-124del
ENST00000437196.1:c.*309-126_*309-124del	ENSP00000407299.1:n.*309-126_*309-124del
NM_000127.2:c.1418-126_1418-124del , LRG_493t1:c.1418-126_1418-124del	NP_000118.2:n.1418-126_1418-124del
NM_000127.3:c.1418-126_1418-124del MANE Select	NP_000118.2:n.1418-126_1418-124del