Canonical Allele Identifier: CA2516767514
Gene: KL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055587_33055588del , CM000675.2:g.33055587_33055588del GRCh38
NC_000013.10:g.33629724_33629725del , CM000675.1:g.33629724_33629725del GRCh37
NC_000013.9:g.32527724_32527725del NCBI36
NG_011485.1:g.44154_44155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+272_1599+273del MANE Select ENSP00000369442.3:n.1599+272_1599+273del
ENST00000380099.3:c.1599+272_1599+273del ENSP00000369442.3:n.1599+272_1599+273del
ENST00000487852.1:n.1657+222_1657+223del
NM_004795.3:c.1599+272_1599+273del NP_004786.2:n.1599+272_1599+273del
XM_006719895.1:c.678+272_678+273del XP_006719958.1:n.678+272_678+273del
XM_006719895.2:c.678+272_678+273del XP_006719958.1:n.678+272_678+273del
NM_004795.4:c.1599+272_1599+273del MANE Select NP_004786.2:n.1599+272_1599+273del