Canonical Allele Identifier: CA2083135959
Gene: KL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055561C= , CM000675.2:g.33055561C= GRCh38
NC_000013.10:g.33629698C= , CM000675.1:g.33629698C= GRCh37
NC_000013.9:g.32527698C= NCBI36
NG_011485.1:g.44128C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+246C= MANE Select ENSP00000369442.3:n.1599+246C=
ENST00000380099.3:c.1599+246C= ENSP00000369442.3:n.1599+246C=
ENST00000487852.1:n.1657+196C=
NM_004795.3:c.1599+246C= NP_004786.2:n.1599+246C=
XM_006719895.1:c.678+246C= XP_006719958.1:n.678+246C=
XM_006719895.2:c.678+246C= XP_006719958.1:n.678+246C=
NM_004795.4:c.1599+246C= MANE Select NP_004786.2:n.1599+246C=