Canonical Allele Identifier: CA342313624
Gene: ADAMTSL4 HGNC NCBI
ADAMTSL4-AS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150557228G>T , CM000663.2:g.150557228G>T GRCh38
NC_000001.10:g.150529704G>T , CM000663.1:g.150529704G>T GRCh37
NC_000001.9:g.148796328G>T NCBI36
NG_012172.1:g.12807G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271643.9:c.1940G>T (ADAMTSL4) MANE Select ENSP00000271643.4:p.Arg647Leu
ENST00000674043.1:c.2009G>T (ADAMTSL4) ENSP00000501295.1:p.Arg670Leu
ENST00000674058.1:c.1857-34G>T (ADAMTSL4) ENSP00000501255.1:n.1857-34G>T
ENST00000271643.8:c.1940G>T (ADAMTSL4) ENSP00000271643.4:p.Arg647Leu
ENST00000369038.6:c.1940G>T (ADAMTSL4) ENSP00000358034.2:p.Arg647Leu
ENST00000369039.9:c.2009G>T (ADAMTSL4) ENSP00000358035.5:p.Arg670Leu
ENST00000369041.9:c.1940G>T (ADAMTSL4) ENSP00000358037.5:p.Arg647Leu
ENST00000622417.4:c.554G>T (ADAMTSL4) ENSP00000477897.1:p.Arg185Leu
NM_001288607.1:c.1857-34G>T (ADAMTSL4) NP_001275536.1:n.1857-34G>T
NM_001288608.1:c.2009G>T (ADAMTSL4) NP_001275537.1:p.Arg670Leu
NM_019032.5:c.1940G>T (ADAMTSL4) NP_061905.2:p.Arg647Leu
NM_025008.4:c.1940G>T (ADAMTSL4) NP_079284.2:p.Arg647Leu
XM_011509644.1:c.2108G>T (ADAMTSL4) XP_011507946.1:p.Arg703Leu
XM_011509645.1:c.2039G>T (ADAMTSL4) XP_011507947.1:p.Arg680Leu
XM_011509646.1:c.2009G>T (ADAMTSL4) XP_011507948.1:p.Arg670Leu
XM_011509647.1:c.2009G>T (ADAMTSL4) XP_011507949.1:p.Arg670Leu
XM_011509648.1:c.2009G>T (ADAMTSL4) XP_011507950.1:p.Arg670Leu
XM_011509649.1:c.2108G>T (ADAMTSL4) XP_011507951.1:p.Arg703Leu
XM_011509650.1:c.2108G>T (ADAMTSL4) XP_011507952.1:p.Arg703Leu
XM_011509651.1:c.617G>T (ADAMTSL4) XP_011507953.1:p.Arg206Leu
XM_011509652.1:c.617G>T (ADAMTSL4) XP_011507954.1:p.Arg206Leu
XR_921844.1:n.2293G>T (ADAMTSL4)
XR_922133.1:n.139+465C>A (ADAMTSL4-AS2)
XM_011509644.3:c.2108G>T (ADAMTSL4) XP_011507946.1:p.Arg703Leu
XM_011509645.3:c.2039G>T (ADAMTSL4) XP_011507947.1:p.Arg680Leu
XM_011509648.3:c.2009G>T (ADAMTSL4) XP_011507950.1:p.Arg670Leu
XM_011509649.3:c.2108G>T (ADAMTSL4) XP_011507951.1:p.Arg703Leu
XM_011509650.3:c.2108G>T (ADAMTSL4) XP_011507952.1:p.Arg703Leu
XM_011509651.2:c.617G>T (ADAMTSL4) XP_011507953.1:p.Arg206Leu
XM_011509652.2:c.617G>T (ADAMTSL4) XP_011507954.1:p.Arg206Leu
XM_017001506.2:c.2009G>T (ADAMTSL4) XP_016856995.1:p.Arg670Leu
XM_017001507.1:c.353G>T (ADAMTSL4) XP_016856996.1:p.Arg118Leu
XR_001737242.2:n.2093G>T (ADAMTSL4)
XR_921844.3:n.2266G>T (ADAMTSL4)
NM_001288607.2:c.1857-34G>T (ADAMTSL4) NP_001275536.1:n.1857-34G>T
NM_025008.5:c.1940G>T (ADAMTSL4) NP_079284.2:p.Arg647Leu
NM_001288608.2:c.2009G>T (ADAMTSL4) NP_001275537.1:p.Arg670Leu
NM_001378596.1:c.1940G>T (ADAMTSL4) NP_001365525.1:p.Arg647Leu
NM_019032.6:c.1940G>T (ADAMTSL4) MANE Select NP_061905.2:p.Arg647Leu