Canonical Allele Identifier: CA2083135930
Gene: KL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055528_33055531delinsAAAT , CM000675.2:g.33055528_33055531delinsAAAT GRCh38
NC_000013.10:g.33629665_33629668delinsAAAT , CM000675.1:g.33629665_33629668delinsAAAT GRCh37
NC_000013.9:g.32527665_32527668delinsAAAT NCBI36
NG_011485.1:g.44095_44098delinsAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+213_1599+216delinsAAAT MANE Select ENSP00000369442.3:n.1599+213_1599+216delinsAAAT
ENST00000380099.3:c.1599+213_1599+216delinsAAAT ENSP00000369442.3:n.1599+213_1599+216delinsAAAT
ENST00000487852.1:n.1657+163_1657+166delinsAAAT
NM_004795.3:c.1599+213_1599+216delinsAAAT NP_004786.2:n.1599+213_1599+216delinsAAAT
XM_006719895.1:c.678+213_678+216delinsAAAT XP_006719958.1:n.678+213_678+216delinsAAAT
XM_006719895.2:c.678+213_678+216delinsAAAT XP_006719958.1:n.678+213_678+216delinsAAAT
NM_004795.4:c.1599+213_1599+216delinsAAAT MANE Select NP_004786.2:n.1599+213_1599+216delinsAAAT