Canonical Allele Identifier: CA1078485

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• ClinVar Variation Id: 1404163
• ClinVar RCV Id: RCV001898950 ; RCV002290795 ; RCV003339803
• dbSNP Id: rs757032537
• ExAC: 1:150529782 ACT / A
• gnomAD v2: 1-150529782-ACT-A
• gnomAD v3: 1-150557306-ACT-A
• gnomAD v4: 1-150557306-ACT-A
• MyVariant Identifiers: chr1:g.150529783_150529784del (hg19) ; chr1:g.150557308_150557309del (hg38) ; chr1:g.150557307_150557308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557309_150557310del , CM000663.2:g.150557309_150557310del	GRCh38
NC_000001.10:g.150529785_150529786del , CM000663.1:g.150529785_150529786del	GRCh37
NC_000001.9:g.148796409_148796410del	NCBI36
NG_012172.1:g.12888_12889del

Transcript Alleles

HGVS	Amino-acid change
ENST00000271643.9:c.2021_2022del (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Ser674CysfsTer21
ENST00000674043.1:c.2090_2091del (ADAMTSL4)	ENSP00000501295.1:p.Ser697CysfsTer21
ENST00000674058.1:c.1904_1905del (ADAMTSL4)	ENSP00000501255.1:p.Ser635CysfsTer21
ENST00000271643.8:c.2021_2022del (ADAMTSL4)	ENSP00000271643.4:p.Ser674CysfsTer21
ENST00000369038.6:c.2021_2022del (ADAMTSL4)	ENSP00000358034.2:p.Ser674CysfsTer21
ENST00000369039.9:c.2090_2091del (ADAMTSL4)	ENSP00000358035.5:p.Ser697CysfsTer21
ENST00000369041.9:c.2021_2022del (ADAMTSL4)	ENSP00000358037.5:p.Ser674CysfsTer21
ENST00000622417.4:c.635_636del (ADAMTSL4)	ENSP00000477897.1:p.Ser212CysfsTer21
NM_001288607.1:c.1904_1905del (ADAMTSL4)	NP_001275536.1:p.Ser635CysfsTer21
NM_001288608.1:c.2090_2091del (ADAMTSL4)	NP_001275537.1:p.Ser697CysfsTer21
NM_019032.5:c.2021_2022del (ADAMTSL4)	NP_061905.2:p.Ser674CysfsTer21
NM_025008.4:c.2021_2022del (ADAMTSL4)	NP_079284.2:p.Ser674CysfsTer21
XM_011509644.1:c.2189_2190del (ADAMTSL4)	XP_011507946.1:p.Ser730CysfsTer21
XM_011509645.1:c.2120_2121del (ADAMTSL4)	XP_011507947.1:p.Ser707CysfsTer21
XM_011509646.1:c.2090_2091del (ADAMTSL4)	XP_011507948.1:p.Ser697CysfsTer21
XM_011509647.1:c.2090_2091del (ADAMTSL4)	XP_011507949.1:p.Ser697CysfsTer21
XM_011509648.1:c.2090_2091del (ADAMTSL4)	XP_011507950.1:p.Ser697CysfsTer21
XM_011509649.1:c.2189_2190del (ADAMTSL4)	XP_011507951.1:p.Ser730CysfsTer21
XM_011509650.1:c.2189_2190del (ADAMTSL4)	XP_011507952.1:p.Ser730CysfsTer21
XM_011509651.1:c.698_699del (ADAMTSL4)	XP_011507953.1:p.Ser233CysfsTer21
XM_011509652.1:c.698_699del (ADAMTSL4)	XP_011507954.1:p.Ser233CysfsTer21
XR_921844.1:n.2374_2375del (ADAMTSL4)
XR_922133.1:n.139+385_139+386del (ADAMTSL4-AS2)
XM_011509644.3:c.2189_2190del (ADAMTSL4)	XP_011507946.1:p.Ser730CysfsTer21
XM_011509645.3:c.2120_2121del (ADAMTSL4)	XP_011507947.1:p.Ser707CysfsTer21
XM_011509648.3:c.2090_2091del (ADAMTSL4)	XP_011507950.1:p.Ser697CysfsTer21
XM_011509649.3:c.2189_2190del (ADAMTSL4)	XP_011507951.1:p.Ser730CysfsTer21
XM_011509650.3:c.2189_2190del (ADAMTSL4)	XP_011507952.1:p.Ser730CysfsTer21
XM_011509651.2:c.698_699del (ADAMTSL4)	XP_011507953.1:p.Ser233CysfsTer21
XM_011509652.2:c.698_699del (ADAMTSL4)	XP_011507954.1:p.Ser233CysfsTer21
XM_017001506.2:c.2090_2091del (ADAMTSL4)	XP_016856995.1:p.Ser697CysfsTer21
XM_017001507.1:c.434_435del (ADAMTSL4)	XP_016856996.1:p.Ser145CysfsTer21
XR_001737242.2:n.2174_2175del (ADAMTSL4)
XR_921844.3:n.2347_2348del (ADAMTSL4)
NM_001288607.2:c.1904_1905del (ADAMTSL4)	NP_001275536.1:p.Ser635CysfsTer21
NM_025008.5:c.2021_2022del (ADAMTSL4)	NP_079284.2:p.Ser674CysfsTer21
NM_001288608.2:c.2090_2091del (ADAMTSL4)	NP_001275537.1:p.Ser697CysfsTer21
NM_001378596.1:c.2021_2022del (ADAMTSL4)	NP_001365525.1:p.Ser674CysfsTer21
NM_019032.6:c.2021_2022del (ADAMTSL4) MANE Select	NP_061905.2:p.Ser674CysfsTer21