Canonical Allele Identifier: CA2697318249
Gene: ADAMTSL4 HGNC NCBI

Linked Data

dbSNP Id: rs2101671072

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150560318_150560319del , CM000663.2:g.150560318_150560319del GRCh38
NC_000001.10:g.150532794_150532795del , CM000663.1:g.150532794_150532795del GRCh37
NC_000001.9:g.148799418_148799419del NCBI36
NG_012172.1:g.15897_15898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271643.9:c.*122_*123del MANE Select ENSP00000271643.4:n.*122_*123del
ENST00000674043.1:c.*122_*123del ENSP00000501295.1:n.*122_*123del
ENST00000674058.1:c.*122_*123del ENSP00000501255.1:n.*122_*123del
ENST00000271643.8:c.*122_*123del ENSP00000271643.4:n.*122_*123del
ENST00000369038.6:c.*122_*123del ENSP00000358034.2:n.*122_*123del
ENST00000369039.9:c.*122_*123del ENSP00000358035.5:n.*122_*123del
ENST00000489159.1:n.1184_1185del
ENST00000622417.4:c.*651_*652del ENSP00000477897.1:n.*651_*652del
NM_001288607.1:c.*122_*123del NP_001275536.1:n.*122_*123del
NM_001288608.1:c.*122_*123del NP_001275537.1:n.*122_*123del
NM_019032.5:c.*122_*123del NP_061905.2:n.*122_*123del
XM_011509644.1:c.*122_*123del XP_011507946.1:n.*122_*123del
XM_011509645.1:c.*122_*123del XP_011507947.1:n.*122_*123del
XM_011509646.1:c.*122_*123del XP_011507948.1:n.*122_*123del
XM_011509647.1:c.*122_*123del XP_011507949.1:n.*122_*123del
XM_011509648.1:c.*122_*123del XP_011507950.1:n.*122_*123del
XM_011509651.1:c.*122_*123del XP_011507953.1:n.*122_*123del
XM_011509652.1:c.*122_*123del XP_011507954.1:n.*122_*123del
XR_921844.1:n.3916_3917del
XM_011509644.3:c.*122_*123del XP_011507946.1:n.*122_*123del
XM_011509645.3:c.*122_*123del XP_011507947.1:n.*122_*123del
XM_011509648.3:c.*122_*123del XP_011507950.1:n.*122_*123del
XM_011509651.2:c.*122_*123del XP_011507953.1:n.*122_*123del
XM_011509652.2:c.*122_*123del XP_011507954.1:n.*122_*123del
XM_017001506.2:c.*122_*123del XP_016856995.1:n.*122_*123del
XM_017001507.1:c.*122_*123del XP_016856996.1:n.*122_*123del
XR_921844.3:n.3889_3890del
NM_001288607.2:c.*122_*123del NP_001275536.1:n.*122_*123del
NM_001288608.2:c.*122_*123del NP_001275537.1:n.*122_*123del
NM_001378596.1:c.*122_*123del NP_001365525.1:n.*122_*123del
NM_019032.6:c.*122_*123del MANE Select NP_061905.2:n.*122_*123del