Canonical Allele Identifier: CA716383990

Gene: ADAMTSL3

Linked Data

• dbSNP Id: rs36062109
• gnomAD v3: 15-83853906-C-CTCTATCTATCTA
• gnomAD v4: 15-83853906-C-CTCTATCTATCTA
• MyVariant Identifiers: chr15:g.84522658_84522659insTCTATCTATCTA (hg19) ; chr15:g.83853906_83853907insTCTATCTATCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.83853947_83853958dup , CM000677.2:g.83853947_83853958dup	GRCh38
NC_000015.9:g.84522699_84522710dup , CM000677.1:g.84522699_84522710dup	GRCh37
NC_000015.8:g.82313703_82313714dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000286744.10:c.728-4819_728-4808dup MANE Select	ENSP00000286744.5:n.728-4819_728-4808dup
ENST00000286744.9:c.728-4819_728-4808dup	ENSP00000286744.5:n.728-4819_728-4808dup
ENST00000561483.5:n.943-4819_943-4808dup
ENST00000567476.1:c.728-4819_728-4808dup	ENSP00000456313.1:n.728-4819_728-4808dup
ENST00000569510.5:n.943-4819_943-4808dup
NM_001301110.1:c.728-4819_728-4808dup	NP_001288039.1:n.728-4819_728-4808dup
NM_207517.2:c.728-4819_728-4808dup	NP_997400.2:n.728-4819_728-4808dup
XM_011521821.1:c.808+4225_808+4236dup	XP_011520123.1:n.808+4225_808+4236dup
XM_011521822.1:c.808+4225_808+4236dup	XP_011520124.1:n.808+4225_808+4236dup
XM_011521823.1:c.808+4225_808+4236dup	XP_011520125.1:n.808+4225_808+4236dup
XM_011521824.1:c.808+4225_808+4236dup	XP_011520126.1:n.808+4225_808+4236dup
XM_011521825.1:c.808+4225_808+4236dup	XP_011520127.1:n.808+4225_808+4236dup
XR_931873.1:n.841+4225_841+4236dup
XM_011521822.2:c.808+4225_808+4236dup	XP_011520124.1:n.808+4225_808+4236dup
XM_011521823.2:c.808+4225_808+4236dup	XP_011520125.1:n.808+4225_808+4236dup
XM_011521824.2:c.808+4225_808+4236dup	XP_011520126.1:n.808+4225_808+4236dup
XM_011521825.2:c.808+4225_808+4236dup	XP_011520127.1:n.808+4225_808+4236dup
XM_017022434.1:c.808+4225_808+4236dup	XP_016877923.1:n.808+4225_808+4236dup
XM_017022435.1:c.232+4225_232+4236dup	XP_016877924.1:n.232+4225_232+4236dup
XM_024450000.1:c.808+4225_808+4236dup	XP_024305768.1:n.808+4225_808+4236dup
XR_931873.2:n.1023+4225_1023+4236dup
NM_207517.3:c.728-4819_728-4808dup MANE Select	NP_997400.2:n.728-4819_728-4808dup
NM_001301110.2:c.728-4819_728-4808dup	NP_001288039.1:n.728-4819_728-4808dup