Canonical Allele Identifier: CA2798738007
Gene: KL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055427_33055428insCCCAAACACACCCAAC , CM000675.2:g.33055427_33055428insCCCAAACACACCCAAC GRCh38
NC_000013.10:g.33629564_33629565insCCCAAACACACCCAAC , CM000675.1:g.33629564_33629565insCCCAAACACACCCAAC GRCh37
NC_000013.9:g.32527564_32527565insCCCAAACACACCCAAC NCBI36
NG_011485.1:g.43994_43995insCCCAAACACACCCAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+112_1599+113insCCCAAACACACCCAAC MANE Select ENSP00000369442.3:n.1599+112_1599+113insCCCAAACACACCCAAC
ENST00000380099.3:c.1599+112_1599+113insCCCAAACACACCCAAC ENSP00000369442.3:n.1599+112_1599+113insCCCAAACACACCCAAC
ENST00000487852.1:n.1657+62_1657+63insCCCAAACACACCCAAC
NM_004795.3:c.1599+112_1599+113insCCCAAACACACCCAAC NP_004786.2:n.1599+112_1599+113insCCCAAACACACCCAAC
XM_006719895.1:c.678+112_678+113insCCCAAACACACCCAAC XP_006719958.1:n.678+112_678+113insCCCAAACACACCCAAC
XM_006719895.2:c.678+112_678+113insCCCAAACACACCCAAC XP_006719958.1:n.678+112_678+113insCCCAAACACACCCAAC
NM_004795.4:c.1599+112_1599+113insCCCAAACACACCCAAC MANE Select NP_004786.2:n.1599+112_1599+113insCCCAAACACACCCAAC