Canonical Allele Identifier: CA2083135926
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1871927595

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055532_33055535del , CM000675.2:g.33055532_33055535del GRCh38
NC_000013.10:g.33629669_33629672del , CM000675.1:g.33629669_33629672del GRCh37
NC_000013.9:g.32527669_32527672del NCBI36
NG_011485.1:g.44099_44102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+217_1599+220del MANE Select ENSP00000369442.3:n.1599+217_1599+220del
ENST00000380099.3:c.1599+217_1599+220del ENSP00000369442.3:n.1599+217_1599+220del
ENST00000487852.1:n.1657+167_1657+170del
NM_004795.3:c.1599+217_1599+220del NP_004786.2:n.1599+217_1599+220del
XM_006719895.1:c.678+217_678+220del XP_006719958.1:n.678+217_678+220del
XM_006719895.2:c.678+217_678+220del XP_006719958.1:n.678+217_678+220del
NM_004795.4:c.1599+217_1599+220del MANE Select NP_004786.2:n.1599+217_1599+220del