Canonical Allele Identifier: CA2083135924
Gene: KL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055525_33055529delinsGATAA , CM000675.2:g.33055525_33055529delinsGATAA GRCh38
NC_000013.10:g.33629662_33629666delinsGATAA , CM000675.1:g.33629662_33629666delinsGATAA GRCh37
NC_000013.9:g.32527662_32527666delinsGATAA NCBI36
NG_011485.1:g.44092_44096delinsGATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+210_1599+214delinsGATAA MANE Select ENSP00000369442.3:n.1599+210_1599+214delinsGATAA
ENST00000380099.3:c.1599+210_1599+214delinsGATAA ENSP00000369442.3:n.1599+210_1599+214delinsGATAA
ENST00000487852.1:n.1657+160_1657+164delinsGATAA
NM_004795.3:c.1599+210_1599+214delinsGATAA NP_004786.2:n.1599+210_1599+214delinsGATAA
XM_006719895.1:c.678+210_678+214delinsGATAA XP_006719958.1:n.678+210_678+214delinsGATAA
XM_006719895.2:c.678+210_678+214delinsGATAA XP_006719958.1:n.678+210_678+214delinsGATAA
NM_004795.4:c.1599+210_1599+214delinsGATAA MANE Select NP_004786.2:n.1599+210_1599+214delinsGATAA