Canonical Allele Identifier: CA261176

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• ClinVar Variation Id: 39555
• ClinVar RCV Id: RCV000032753 ; RCV000032754 ; RCV000336254 ; RCV000844602 ; RCV002243679 ; RCV002504853
• dbSNP Id: rs199473693
• ExAC: 1:150526225 CCAGAGCCCAGGCCTCTGGCA / C
• gnomAD v2: 1-150526225-CCAGAGCCCAGGCCTCTGGCA-C
• gnomAD v3: 1-150553749-CCAGAGCCCAGGCCTCTGGCA-C
• gnomAD v4: 1-150553749-CCAGAGCCCAGGCCTCTGGCA-C
• MyVariant Identifiers: chr1:g.150526234_150526253del (hg19) ; chr1:g.150526226_150526245del (hg19) ; chr1:g.150553758_150553777del (hg38) ; chr1:g.150553751_150553770del (hg38) ; chr1:g.150553750_150553769del (hg38)
• PubMed: PMID:20564469 ; PMID:20702823 ; PMID:21051722 ; PMID:22736615

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150553758_150553777del , CM000663.2:g.150553758_150553777del	GRCh38
NC_000001.10:g.150526234_150526253del , CM000663.1:g.150526234_150526253del	GRCh37
NC_000001.9:g.148792858_148792877del	NCBI36
NG_012172.1:g.9337_9356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.767_786del (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Gln256ProfsTer?
ENST00000674043.1:c.767_786del (ADAMTSL4)	ENSP00000501295.1:p.Gln256ProfsTer?
ENST00000674058.1:c.767_786del (ADAMTSL4)	ENSP00000501255.1:p.Gln256ProfsTer?
ENST00000271643.8:c.767_786del (ADAMTSL4)	ENSP00000271643.4:p.Gln256ProfsTer?
ENST00000369038.6:c.767_786del (ADAMTSL4)	ENSP00000358034.2:p.Gln256ProfsTer?
ENST00000369039.9:c.767_786del (ADAMTSL4)	ENSP00000358035.5:p.Gln256ProfsTer?
ENST00000369041.9:c.767_786del (ADAMTSL4)	ENSP00000358037.5:p.Gln256ProfsTer?
NM_001288607.1:c.767_786del (ADAMTSL4)	NP_001275536.1:p.Gln256ProfsTer?
NM_001288608.1:c.767_786del (ADAMTSL4)	NP_001275537.1:p.Gln256ProfsTer?
NM_019032.5:c.767_786del (ADAMTSL4)	NP_061905.2:p.Gln256ProfsTer?
NM_025008.4:c.767_786del (ADAMTSL4)	NP_079284.2:p.Gln256ProfsTer?
XM_011509644.1:c.866_885del (ADAMTSL4)	XP_011507946.1:p.Gln289ProfsTer?
XM_011509645.1:c.866_885del (ADAMTSL4)	XP_011507947.1:p.Gln289ProfsTer?
XM_011509646.1:c.767_786del (ADAMTSL4)	XP_011507948.1:p.Gln256ProfsTer?
XM_011509647.1:c.767_786del (ADAMTSL4)	XP_011507949.1:p.Gln256ProfsTer?
XM_011509648.1:c.767_786del (ADAMTSL4)	XP_011507950.1:p.Gln256ProfsTer?
XM_011509649.1:c.866_885del (ADAMTSL4)	XP_011507951.1:p.Gln289ProfsTer?
XM_011509650.1:c.866_885del (ADAMTSL4)	XP_011507952.1:p.Gln289ProfsTer?
XR_921844.1:n.1051_1070del (ADAMTSL4)
XR_922132.1:n.370+766_370+785del (ADAMTSL4-AS2)
XR_922133.1:n.417+766_417+785del (ADAMTSL4-AS2)
XM_011509644.3:c.866_885del (ADAMTSL4)	XP_011507946.1:p.Gln289ProfsTer?
XM_011509645.3:c.866_885del (ADAMTSL4)	XP_011507947.1:p.Gln289ProfsTer?
XM_011509648.3:c.767_786del (ADAMTSL4)	XP_011507950.1:p.Gln256ProfsTer?
XM_011509649.3:c.866_885del (ADAMTSL4)	XP_011507951.1:p.Gln289ProfsTer?
XM_011509650.3:c.866_885del (ADAMTSL4)	XP_011507952.1:p.Gln289ProfsTer?
XM_017001506.2:c.767_786del (ADAMTSL4)	XP_016856995.1:p.Gln256ProfsTer?
XR_001737242.2:n.1024_1043del (ADAMTSL4)
XR_001738226.1:n.466+766_466+785del (ADAMTSL4-AS2)
XR_001738227.1:n.466+766_466+785del (ADAMTSL4-AS2)
XR_001738228.1:n.371+766_371+785del (ADAMTSL4-AS2)
XR_001738229.1:n.357+2185_357+2204del (ADAMTSL4-AS2)
XR_921844.3:n.1024_1043del (ADAMTSL4)
NM_001288607.2:c.767_786del (ADAMTSL4)	NP_001275536.1:p.Gln256ProfsTer?
NM_025008.5:c.767_786del (ADAMTSL4)	NP_079284.2:p.Gln256ProfsTer?
NM_001288608.2:c.767_786del (ADAMTSL4)	NP_001275537.1:p.Gln256ProfsTer?
NM_001378596.1:c.767_786del (ADAMTSL4)	NP_001365525.1:p.Gln256ProfsTer?
NM_019032.6:c.767_786del (ADAMTSL4) MANE Select	NP_061905.2:p.Gln256ProfsTer?