Canonical Allele Identifier: CA2739275269
Gene: ADAMTSL4 HGNC NCBI
ADAMTSL4-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2824692
ClinVar RCV Id: RCV003678317

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150557064_150557071dup , CM000663.2:g.150557064_150557071dup GRCh38
NC_000001.10:g.150529540_150529547dup , CM000663.1:g.150529540_150529547dup GRCh37
NC_000001.9:g.148796164_148796171dup NCBI36
NG_012172.1:g.12643_12650dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000271643.9:c.1861+14_1861+21dup (ADAMTSL4) MANE Select ENSP00000271643.4:n.1861+14_1861+21dup
ENST00000674043.1:c.1930+14_1930+21dup (ADAMTSL4) ENSP00000501295.1:n.1930+14_1930+21dup
ENST00000674058.1:c.1856+88_1856+95dup (ADAMTSL4) ENSP00000501255.1:n.1856+88_1856+95dup
ENST00000271643.8:c.1861+14_1861+21dup (ADAMTSL4) ENSP00000271643.4:n.1861+14_1861+21dup
ENST00000369038.6:c.1861+14_1861+21dup (ADAMTSL4) ENSP00000358034.2:n.1861+14_1861+21dup
ENST00000369039.9:c.1930+14_1930+21dup (ADAMTSL4) ENSP00000358035.5:n.1930+14_1930+21dup
ENST00000369041.9:c.1861+14_1861+21dup (ADAMTSL4) ENSP00000358037.5:n.1861+14_1861+21dup
ENST00000622417.4:c.475+14_475+21dup (ADAMTSL4) ENSP00000477897.1:n.475+14_475+21dup
NM_001288607.1:c.1856+88_1856+95dup (ADAMTSL4) NP_001275536.1:n.1856+88_1856+95dup
NM_001288608.1:c.1930+14_1930+21dup (ADAMTSL4) NP_001275537.1:n.1930+14_1930+21dup
NM_019032.5:c.1861+14_1861+21dup (ADAMTSL4) NP_061905.2:n.1861+14_1861+21dup
NM_025008.4:c.1861+14_1861+21dup (ADAMTSL4) NP_079284.2:n.1861+14_1861+21dup
XM_011509644.1:c.2029+14_2029+21dup (ADAMTSL4) XP_011507946.1:n.2029+14_2029+21dup
XM_011509645.1:c.1960+14_1960+21dup (ADAMTSL4) XP_011507947.1:n.1960+14_1960+21dup
XM_011509646.1:c.1930+14_1930+21dup (ADAMTSL4) XP_011507948.1:n.1930+14_1930+21dup
XM_011509647.1:c.1930+14_1930+21dup (ADAMTSL4) XP_011507949.1:n.1930+14_1930+21dup
XM_011509648.1:c.1930+14_1930+21dup (ADAMTSL4) XP_011507950.1:n.1930+14_1930+21dup
XM_011509649.1:c.2029+14_2029+21dup (ADAMTSL4) XP_011507951.1:n.2029+14_2029+21dup
XM_011509650.1:c.2029+14_2029+21dup (ADAMTSL4) XP_011507952.1:n.2029+14_2029+21dup
XM_011509651.1:c.538+14_538+21dup (ADAMTSL4) XP_011507953.1:n.538+14_538+21dup
XM_011509652.1:c.538+14_538+21dup (ADAMTSL4) XP_011507954.1:n.538+14_538+21dup
XR_921844.1:n.2214+14_2214+21dup (ADAMTSL4)
XR_922133.1:n.139+624_139+631dup (ADAMTSL4-AS2)
XM_011509644.3:c.2029+14_2029+21dup (ADAMTSL4) XP_011507946.1:n.2029+14_2029+21dup
XM_011509645.3:c.1960+14_1960+21dup (ADAMTSL4) XP_011507947.1:n.1960+14_1960+21dup
XM_011509648.3:c.1930+14_1930+21dup (ADAMTSL4) XP_011507950.1:n.1930+14_1930+21dup
XM_011509649.3:c.2029+14_2029+21dup (ADAMTSL4) XP_011507951.1:n.2029+14_2029+21dup
XM_011509650.3:c.2029+14_2029+21dup (ADAMTSL4) XP_011507952.1:n.2029+14_2029+21dup
XM_011509651.2:c.538+14_538+21dup (ADAMTSL4) XP_011507953.1:n.538+14_538+21dup
XM_011509652.2:c.538+14_538+21dup (ADAMTSL4) XP_011507954.1:n.538+14_538+21dup
XM_017001506.2:c.1930+14_1930+21dup (ADAMTSL4) XP_016856995.1:n.1930+14_1930+21dup
XM_017001507.1:c.274+14_274+21dup (ADAMTSL4) XP_016856996.1:n.274+14_274+21dup
XR_001737242.2:n.2014+14_2014+21dup (ADAMTSL4)
XR_921844.3:n.2187+14_2187+21dup (ADAMTSL4)
NM_001288607.2:c.1856+88_1856+95dup (ADAMTSL4) NP_001275536.1:n.1856+88_1856+95dup
NM_025008.5:c.1861+14_1861+21dup (ADAMTSL4) NP_079284.2:n.1861+14_1861+21dup
NM_001288608.2:c.1930+14_1930+21dup (ADAMTSL4) NP_001275537.1:n.1930+14_1930+21dup
NM_001378596.1:c.1861+14_1861+21dup (ADAMTSL4) NP_001365525.1:n.1861+14_1861+21dup
NM_019032.6:c.1861+14_1861+21dup (ADAMTSL4) MANE Select NP_061905.2:n.1861+14_1861+21dup