Canonical Allele Identifier: CA526260861

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• dbSNP Id: rs753751975
• gnomAD v2: 1-150529717-G-GCCCGC
• MyVariant Identifiers: chr1:g.150529722_150529723insCCCGC (hg19) ; chr1:g.150557246_150557247insCCCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557250_150557254dup , CM000663.2:g.150557250_150557254dup	GRCh38
NC_000001.10:g.150529726_150529730dup , CM000663.1:g.150529726_150529730dup	GRCh37
NC_000001.9:g.148796350_148796354dup	NCBI36
NG_012172.1:g.12829_12833dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1962_1966dup (ADAMTSL4) MANE Select	ENSP00000271643.4:p.His656ArgfsTer?
ENST00000674043.1:c.2031_2035dup (ADAMTSL4)	ENSP00000501295.1:p.His679ArgfsTer?
ENST00000674058.1:c.1857-12_1857-8dup (ADAMTSL4)	ENSP00000501255.1:n.1857-12_1857-8dup
ENST00000271643.8:c.1962_1966dup (ADAMTSL4)	ENSP00000271643.4:p.His656ArgfsTer?
ENST00000369038.6:c.1962_1966dup (ADAMTSL4)	ENSP00000358034.2:p.His656ArgfsTer?
ENST00000369039.9:c.2031_2035dup (ADAMTSL4)	ENSP00000358035.5:p.His679ArgfsTer?
ENST00000369041.9:c.1962_1966dup (ADAMTSL4)	ENSP00000358037.5:p.His656ArgfsTer?
ENST00000622417.4:c.576_580dup (ADAMTSL4)	ENSP00000477897.1:p.His194ArgfsTer?
NM_001288607.1:c.1857-12_1857-8dup (ADAMTSL4)	NP_001275536.1:n.1857-12_1857-8dup
NM_001288608.1:c.2031_2035dup (ADAMTSL4)	NP_001275537.1:p.His679ArgfsTer?
NM_019032.5:c.1962_1966dup (ADAMTSL4)	NP_061905.2:p.His656ArgfsTer?
NM_025008.4:c.1962_1966dup (ADAMTSL4)	NP_079284.2:p.His656ArgfsTer?
XM_011509644.1:c.2130_2134dup (ADAMTSL4)	XP_011507946.1:p.His712ArgfsTer?
XM_011509645.1:c.2061_2065dup (ADAMTSL4)	XP_011507947.1:p.His689ArgfsTer?
XM_011509646.1:c.2031_2035dup (ADAMTSL4)	XP_011507948.1:p.His679ArgfsTer?
XM_011509647.1:c.2031_2035dup (ADAMTSL4)	XP_011507949.1:p.His679ArgfsTer?
XM_011509648.1:c.2031_2035dup (ADAMTSL4)	XP_011507950.1:p.His679ArgfsTer?
XM_011509649.1:c.2130_2134dup (ADAMTSL4)	XP_011507951.1:p.His712ArgfsTer?
XM_011509650.1:c.2130_2134dup (ADAMTSL4)	XP_011507952.1:p.His712ArgfsTer?
XM_011509651.1:c.639_643dup (ADAMTSL4)	XP_011507953.1:p.His215ArgfsTer?
XM_011509652.1:c.639_643dup (ADAMTSL4)	XP_011507954.1:p.His215ArgfsTer?
XR_921844.1:n.2315_2319dup (ADAMTSL4)
XR_922133.1:n.139+447_139+451dup (ADAMTSL4-AS2)
XM_011509644.3:c.2130_2134dup (ADAMTSL4)	XP_011507946.1:p.His712ArgfsTer?
XM_011509645.3:c.2061_2065dup (ADAMTSL4)	XP_011507947.1:p.His689ArgfsTer?
XM_011509648.3:c.2031_2035dup (ADAMTSL4)	XP_011507950.1:p.His679ArgfsTer?
XM_011509649.3:c.2130_2134dup (ADAMTSL4)	XP_011507951.1:p.His712ArgfsTer?
XM_011509650.3:c.2130_2134dup (ADAMTSL4)	XP_011507952.1:p.His712ArgfsTer?
XM_011509651.2:c.639_643dup (ADAMTSL4)	XP_011507953.1:p.His215ArgfsTer?
XM_011509652.2:c.639_643dup (ADAMTSL4)	XP_011507954.1:p.His215ArgfsTer?
XM_017001506.2:c.2031_2035dup (ADAMTSL4)	XP_016856995.1:p.His679ArgfsTer?
XM_017001507.1:c.375_379dup (ADAMTSL4)	XP_016856996.1:p.His127ArgfsTer?
XR_001737242.2:n.2115_2119dup (ADAMTSL4)
XR_921844.3:n.2288_2292dup (ADAMTSL4)
NM_001288607.2:c.1857-12_1857-8dup (ADAMTSL4)	NP_001275536.1:n.1857-12_1857-8dup
NM_025008.5:c.1962_1966dup (ADAMTSL4)	NP_079284.2:p.His656ArgfsTer?
NM_001288608.2:c.2031_2035dup (ADAMTSL4)	NP_001275537.1:p.His679ArgfsTer?
NM_001378596.1:c.1962_1966dup (ADAMTSL4)	NP_001365525.1:p.His656ArgfsTer?
NM_019032.6:c.1962_1966dup (ADAMTSL4) MANE Select	NP_061905.2:p.His656ArgfsTer?