Canonical Allele Identifier: CA584341145

Gene: EXT1

Linked Data

• dbSNP Id: rs775982542
• gnomAD v2: 8-118847796-C-CAAAAAAAA
• gnomAD v3: 8-117835557-C-CAAAAAAAA
• gnomAD v4: 8-117835557-C-CAAAAAAAA
• MyVariant Identifiers: chr8:g.118847796_118847797insAAAAAAAA (hg19) ; chr8:g.117835557_117835558insAAAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835563_117835564insAAAAAAAA , CM000670.2:g.117835563_117835564insAAAAAAAA	GRCh38
NC_000008.10:g.118847802_118847803insAAAAAAAA , CM000670.1:g.118847802_118847803insAAAAAAAA	GRCh37
NC_000008.9:g.118916983_118916984insAAAAAAAA	NCBI36
NG_007455.2:g.281262_281263insTTTTTTTT , LRG_493:g.281262_281263insTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.524-7_524-6insTTTTTTTT
ENST00000378204.7:c.1057-7_1057-6insTTTTTTTT MANE Select	ENSP00000367446.3:n.1057-7_1057-6insTTTTTTTT
ENST00000436216.2:c.425-7_425-6insTTTTTTTT
ENST00000378204.6:c.1057-7_1057-6insTTTTTTTT	ENSP00000367446.2:n.1057-7_1057-6insTTTTTTTT
ENST00000436216.1:c.425-7_425-6insTTTTTTTT
ENST00000437196.1:c.74-7_74-6insTTTTTTTT	ENSP00000407299.1:n.74-7_74-6insTTTTTTTT
NM_000127.2:c.1057-7_1057-6insTTTTTTTT , LRG_493t1:c.1057-7_1057-6insTTTTTTTT	NP_000118.2:n.1057-7_1057-6insTTTTTTTT
NM_000127.3:c.1057-7_1057-6insTTTTTTTT MANE Select	NP_000118.2:n.1057-7_1057-6insTTTTTTTT