Canonical Allele Identifier: CA2192014891

Gene: ADAMTSL3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.83853902_83853922delinsCTATCTCTATCTATCTATCTA , CM000677.2:g.83853902_83853922delinsCTATCTCTATCTATCTATCTA	GRCh38
NC_000015.9:g.84522654_84522674delinsCTATCTCTATCTATCTATCTA , CM000677.1:g.84522654_84522674delinsCTATCTCTATCTATCTATCTA	GRCh37
NC_000015.8:g.82313658_82313678delinsCTATCTCTATCTATCTATCTA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000286744.10:c.728-4864_728-4844delinsCTATCTCTATCTATCTATCTA MANE Select	ENSP00000286744.5:n.728-4864_728-4844deli...
ENST00000286744.9:c.728-4864_728-4844delinsCTATCTCTATCTATCTATCTA	ENSP00000286744.5:n.728-4864_728-4844deli...
ENST00000561483.5:n.943-4864_943-4844delinsCTATCTCTATCTATCTATCTA
ENST00000567476.1:c.728-4864_728-4844delinsCTATCTCTATCTATCTATCTA	ENSP00000456313.1:n.728-4864_728-4844deli...
ENST00000569510.5:n.943-4864_943-4844delinsCTATCTCTATCTATCTATCTA
NM_001301110.1:c.728-4864_728-4844delinsCTATCTCTATCTATCTATCTA	NP_001288039.1:n.728-4864_728-4844delinsC...
NM_207517.2:c.728-4864_728-4844delinsCTATCTCTATCTATCTATCTA	NP_997400.2:n.728-4864_728-4844delinsCTAT...
XM_011521821.1:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520123.1:n.808+4180_808+4200delinsC...
XM_011521822.1:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520124.1:n.808+4180_808+4200delinsC...
XM_011521823.1:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520125.1:n.808+4180_808+4200delinsC...
XM_011521824.1:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520126.1:n.808+4180_808+4200delinsC...
XM_011521825.1:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520127.1:n.808+4180_808+4200delinsC...
XR_931873.1:n.841+4180_841+4200delinsCTATCTCTATCTATCTATCTA
XM_011521822.2:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520124.1:n.808+4180_808+4200delinsC...
XM_011521823.2:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520125.1:n.808+4180_808+4200delinsC...
XM_011521824.2:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520126.1:n.808+4180_808+4200delinsC...
XM_011521825.2:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_011520127.1:n.808+4180_808+4200delinsC...
XM_017022434.1:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_016877923.1:n.808+4180_808+4200delinsC...
XM_017022435.1:c.232+4180_232+4200delinsCTATCTCTATCTATCTATCTA	XP_016877924.1:n.232+4180_232+4200delinsC...
XM_024450000.1:c.808+4180_808+4200delinsCTATCTCTATCTATCTATCTA	XP_024305768.1:n.808+4180_808+4200delinsC...
XR_931873.2:n.1023+4180_1023+4200delinsCTATCTCTATCTATCTATCTA
NM_207517.3:c.728-4864_728-4844delinsCTATCTCTATCTATCTATCTA MANE Select	NP_997400.2:n.728-4864_728-4844delinsCTAT...
NM_001301110.2:c.728-4864_728-4844delinsCTATCTCTATCTATCTATCTA	NP_001288039.1:n.728-4864_728-4844delinsC...