Canonical Allele Identifier: CA2083135912
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1871926863
gnomAD v4: 13-33055513-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055513G>A , CM000675.2:g.33055513G>A GRCh38
NC_000013.10:g.33629650G>A , CM000675.1:g.33629650G>A GRCh37
NC_000013.9:g.32527650G>A NCBI36
NG_011485.1:g.44080G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+198G>A MANE Select ENSP00000369442.3:n.1599+198G>A
ENST00000380099.3:c.1599+198G>A ENSP00000369442.3:n.1599+198G>A
ENST00000487852.1:n.1657+148G>A
NM_004795.3:c.1599+198G>A NP_004786.2:n.1599+198G>A
XM_006719895.1:c.678+198G>A XP_006719958.1:n.678+198G>A
XM_006719895.2:c.678+198G>A XP_006719958.1:n.678+198G>A
NM_004795.4:c.1599+198G>A MANE Select NP_004786.2:n.1599+198G>A
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