Canonical Allele Identifier: CA1078467

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• dbSNP Id: rs753751975
• ExAC: 1:150529717 GCCCGC / G
• gnomAD v2: 1-150529717-GCCCGC-G
• gnomAD v4: 1-150557241-GCCCGC-G
• MyVariant Identifiers: chr1:g.150529718_150529722del (hg19) ; chr1:g.150557242_150557246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557250_150557254del , CM000663.2:g.150557250_150557254del	GRCh38
NC_000001.10:g.150529726_150529730del , CM000663.1:g.150529726_150529730del	GRCh37
NC_000001.9:g.148796350_148796354del	NCBI36
NG_012172.1:g.12829_12833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1962_1966del (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Pro655SerfsTer?
ENST00000674043.1:c.2031_2035del (ADAMTSL4)	ENSP00000501295.1:p.Pro678SerfsTer?
ENST00000674058.1:c.1857-12_1857-8del (ADAMTSL4)	ENSP00000501255.1:n.1857-12_1857-8del
ENST00000271643.8:c.1962_1966del (ADAMTSL4)	ENSP00000271643.4:p.Pro655SerfsTer?
ENST00000369038.6:c.1962_1966del (ADAMTSL4)	ENSP00000358034.2:p.Pro655SerfsTer?
ENST00000369039.9:c.2031_2035del (ADAMTSL4)	ENSP00000358035.5:p.Pro678SerfsTer?
ENST00000369041.9:c.1962_1966del (ADAMTSL4)	ENSP00000358037.5:p.Pro655SerfsTer?
ENST00000622417.4:c.576_580del (ADAMTSL4)	ENSP00000477897.1:p.Pro193SerfsTer?
NM_001288607.1:c.1857-12_1857-8del (ADAMTSL4)	NP_001275536.1:n.1857-12_1857-8del
NM_001288608.1:c.2031_2035del (ADAMTSL4)	NP_001275537.1:p.Pro678SerfsTer?
NM_019032.5:c.1962_1966del (ADAMTSL4)	NP_061905.2:p.Pro655SerfsTer?
NM_025008.4:c.1962_1966del (ADAMTSL4)	NP_079284.2:p.Pro655SerfsTer?
XM_011509644.1:c.2130_2134del (ADAMTSL4)	XP_011507946.1:p.Pro711SerfsTer?
XM_011509645.1:c.2061_2065del (ADAMTSL4)	XP_011507947.1:p.Pro688SerfsTer?
XM_011509646.1:c.2031_2035del (ADAMTSL4)	XP_011507948.1:p.Pro678SerfsTer?
XM_011509647.1:c.2031_2035del (ADAMTSL4)	XP_011507949.1:p.Pro678SerfsTer?
XM_011509648.1:c.2031_2035del (ADAMTSL4)	XP_011507950.1:p.Pro678SerfsTer?
XM_011509649.1:c.2130_2134del (ADAMTSL4)	XP_011507951.1:p.Pro711SerfsTer?
XM_011509650.1:c.2130_2134del (ADAMTSL4)	XP_011507952.1:p.Pro711SerfsTer?
XM_011509651.1:c.639_643del (ADAMTSL4)	XP_011507953.1:p.Pro214SerfsTer?
XM_011509652.1:c.639_643del (ADAMTSL4)	XP_011507954.1:p.Pro214SerfsTer?
XR_921844.1:n.2315_2319del (ADAMTSL4)
XR_922133.1:n.139+447_139+451del (ADAMTSL4-AS2)
XM_011509644.3:c.2130_2134del (ADAMTSL4)	XP_011507946.1:p.Pro711SerfsTer?
XM_011509645.3:c.2061_2065del (ADAMTSL4)	XP_011507947.1:p.Pro688SerfsTer?
XM_011509648.3:c.2031_2035del (ADAMTSL4)	XP_011507950.1:p.Pro678SerfsTer?
XM_011509649.3:c.2130_2134del (ADAMTSL4)	XP_011507951.1:p.Pro711SerfsTer?
XM_011509650.3:c.2130_2134del (ADAMTSL4)	XP_011507952.1:p.Pro711SerfsTer?
XM_011509651.2:c.639_643del (ADAMTSL4)	XP_011507953.1:p.Pro214SerfsTer?
XM_011509652.2:c.639_643del (ADAMTSL4)	XP_011507954.1:p.Pro214SerfsTer?
XM_017001506.2:c.2031_2035del (ADAMTSL4)	XP_016856995.1:p.Pro678SerfsTer?
XM_017001507.1:c.375_379del (ADAMTSL4)	XP_016856996.1:p.Pro126SerfsTer?
XR_001737242.2:n.2115_2119del (ADAMTSL4)
XR_921844.3:n.2288_2292del (ADAMTSL4)
NM_001288607.2:c.1857-12_1857-8del (ADAMTSL4)	NP_001275536.1:n.1857-12_1857-8del
NM_025008.5:c.1962_1966del (ADAMTSL4)	NP_079284.2:p.Pro655SerfsTer?
NM_001288608.2:c.2031_2035del (ADAMTSL4)	NP_001275537.1:p.Pro678SerfsTer?
NM_001378596.1:c.1962_1966del (ADAMTSL4)	NP_001365525.1:p.Pro655SerfsTer?
NM_019032.6:c.1962_1966del (ADAMTSL4) MANE Select	NP_061905.2:p.Pro655SerfsTer?