Canonical Allele Identifier: CA273589102

Gene: ADAMTSL3

Linked Data

• dbSNP Id: rs1003917314
• gnomAD v2: 15-84522656-ATCTCTATC-A
• gnomAD v3: 15-83853904-ATCTCTATC-A
• gnomAD v4: 15-83853904-ATCTCTATC-A
• MyVariant Identifiers: chr15:g.84522657_84522664del (hg19) ; chr15:g.83853905_83853912del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.83853906_83853913del , CM000677.2:g.83853906_83853913del	GRCh38
NC_000015.9:g.84522658_84522665del , CM000677.1:g.84522658_84522665del	GRCh37
NC_000015.8:g.82313662_82313669del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000286744.10:c.728-4860_728-4853del MANE Select	ENSP00000286744.5:n.728-4860_728-4853del
ENST00000286744.9:c.728-4860_728-4853del	ENSP00000286744.5:n.728-4860_728-4853del
ENST00000561483.5:n.943-4860_943-4853del
ENST00000567476.1:c.728-4860_728-4853del	ENSP00000456313.1:n.728-4860_728-4853del
ENST00000569510.5:n.943-4860_943-4853del
NM_001301110.1:c.728-4860_728-4853del	NP_001288039.1:n.728-4860_728-4853del
NM_207517.2:c.728-4860_728-4853del	NP_997400.2:n.728-4860_728-4853del
XM_011521821.1:c.808+4184_808+4191del	XP_011520123.1:n.808+4184_808+4191del
XM_011521822.1:c.808+4184_808+4191del	XP_011520124.1:n.808+4184_808+4191del
XM_011521823.1:c.808+4184_808+4191del	XP_011520125.1:n.808+4184_808+4191del
XM_011521824.1:c.808+4184_808+4191del	XP_011520126.1:n.808+4184_808+4191del
XM_011521825.1:c.808+4184_808+4191del	XP_011520127.1:n.808+4184_808+4191del
XR_931873.1:n.841+4184_841+4191del
XM_011521822.2:c.808+4184_808+4191del	XP_011520124.1:n.808+4184_808+4191del
XM_011521823.2:c.808+4184_808+4191del	XP_011520125.1:n.808+4184_808+4191del
XM_011521824.2:c.808+4184_808+4191del	XP_011520126.1:n.808+4184_808+4191del
XM_011521825.2:c.808+4184_808+4191del	XP_011520127.1:n.808+4184_808+4191del
XM_017022434.1:c.808+4184_808+4191del	XP_016877923.1:n.808+4184_808+4191del
XM_017022435.1:c.232+4184_232+4191del	XP_016877924.1:n.232+4184_232+4191del
XM_024450000.1:c.808+4184_808+4191del	XP_024305768.1:n.808+4184_808+4191del
XR_931873.2:n.1023+4184_1023+4191del
NM_207517.3:c.728-4860_728-4853del MANE Select	NP_997400.2:n.728-4860_728-4853del
NM_001301110.2:c.728-4860_728-4853del	NP_001288039.1:n.728-4860_728-4853del