Canonical Allele Identifier: CA2739275267

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• ClinVar Variation Id: 2830751
• ClinVar RCV Id: RCV003678841

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557029_150557030del , CM000663.2:g.150557029_150557030del	GRCh38
NC_000001.10:g.150529505_150529506del , CM000663.1:g.150529505_150529506del	GRCh37
NC_000001.9:g.148796129_148796130del	NCBI36
NG_012172.1:g.12608_12609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1840_1841del (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Pro614CysfsTer?
ENST00000674043.1:c.1909_1910del (ADAMTSL4)	ENSP00000501295.1:p.Pro637CysfsTer?
ENST00000674058.1:c.1856+53_1856+54del (ADAMTSL4)	ENSP00000501255.1:n.1856+53_1856+54del
ENST00000271643.8:c.1840_1841del (ADAMTSL4)	ENSP00000271643.4:p.Pro614CysfsTer?
ENST00000369038.6:c.1840_1841del (ADAMTSL4)	ENSP00000358034.2:p.Pro614CysfsTer?
ENST00000369039.9:c.1909_1910del (ADAMTSL4)	ENSP00000358035.5:p.Pro637CysfsTer?
ENST00000369041.9:c.1840_1841del (ADAMTSL4)	ENSP00000358037.5:p.Pro614CysfsTer?
ENST00000622417.4:c.454_455del (ADAMTSL4)	ENSP00000477897.1:p.Pro152CysfsTer?
NM_001288607.1:c.1856+53_1856+54del (ADAMTSL4)	NP_001275536.1:n.1856+53_1856+54del
NM_001288608.1:c.1909_1910del (ADAMTSL4)	NP_001275537.1:p.Pro637CysfsTer?
NM_019032.5:c.1840_1841del (ADAMTSL4)	NP_061905.2:p.Pro614CysfsTer?
NM_025008.4:c.1840_1841del (ADAMTSL4)	NP_079284.2:p.Pro614CysfsTer?
XM_011509644.1:c.2008_2009del (ADAMTSL4)	XP_011507946.1:p.Pro670CysfsTer?
XM_011509645.1:c.1939_1940del (ADAMTSL4)	XP_011507947.1:p.Pro647CysfsTer?
XM_011509646.1:c.1909_1910del (ADAMTSL4)	XP_011507948.1:p.Pro637CysfsTer?
XM_011509647.1:c.1909_1910del (ADAMTSL4)	XP_011507949.1:p.Pro637CysfsTer?
XM_011509648.1:c.1909_1910del (ADAMTSL4)	XP_011507950.1:p.Pro637CysfsTer?
XM_011509649.1:c.2008_2009del (ADAMTSL4)	XP_011507951.1:p.Pro670CysfsTer?
XM_011509650.1:c.2008_2009del (ADAMTSL4)	XP_011507952.1:p.Pro670CysfsTer?
XM_011509651.1:c.517_518del (ADAMTSL4)	XP_011507953.1:p.Pro173CysfsTer?
XM_011509652.1:c.517_518del (ADAMTSL4)	XP_011507954.1:p.Pro173CysfsTer?
XR_921844.1:n.2193_2194del (ADAMTSL4)
XR_922133.1:n.139+666_139+667del (ADAMTSL4-AS2)
XM_011509644.3:c.2008_2009del (ADAMTSL4)	XP_011507946.1:p.Pro670CysfsTer?
XM_011509645.3:c.1939_1940del (ADAMTSL4)	XP_011507947.1:p.Pro647CysfsTer?
XM_011509648.3:c.1909_1910del (ADAMTSL4)	XP_011507950.1:p.Pro637CysfsTer?
XM_011509649.3:c.2008_2009del (ADAMTSL4)	XP_011507951.1:p.Pro670CysfsTer?
XM_011509650.3:c.2008_2009del (ADAMTSL4)	XP_011507952.1:p.Pro670CysfsTer?
XM_011509651.2:c.517_518del (ADAMTSL4)	XP_011507953.1:p.Pro173CysfsTer?
XM_011509652.2:c.517_518del (ADAMTSL4)	XP_011507954.1:p.Pro173CysfsTer?
XM_017001506.2:c.1909_1910del (ADAMTSL4)	XP_016856995.1:p.Pro637CysfsTer?
XM_017001507.1:c.253_254del (ADAMTSL4)	XP_016856996.1:p.Pro85CysfsTer?
XR_001737242.2:n.1993_1994del (ADAMTSL4)
XR_921844.3:n.2166_2167del (ADAMTSL4)
NM_001288607.2:c.1856+53_1856+54del (ADAMTSL4)	NP_001275536.1:n.1856+53_1856+54del
NM_025008.5:c.1840_1841del (ADAMTSL4)	NP_079284.2:p.Pro614CysfsTer?
NM_001288608.2:c.1909_1910del (ADAMTSL4)	NP_001275537.1:p.Pro637CysfsTer?
NM_001378596.1:c.1840_1841del (ADAMTSL4)	NP_001365525.1:p.Pro614CysfsTer?
NM_019032.6:c.1840_1841del (ADAMTSL4) MANE Select	NP_061905.2:p.Pro614CysfsTer?