Canonical Allele Identifier: CA2622630008
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33055445-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055445C>A , CM000675.2:g.33055445C>A GRCh38
NC_000013.10:g.33629582C>A , CM000675.1:g.33629582C>A GRCh37
NC_000013.9:g.32527582C>A NCBI36
NG_011485.1:g.44012C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+130C>A MANE Select ENSP00000369442.3:n.1599+130C>A
ENST00000380099.3:c.1599+130C>A ENSP00000369442.3:n.1599+130C>A
ENST00000487852.1:n.1657+80C>A
NM_004795.3:c.1599+130C>A NP_004786.2:n.1599+130C>A
XM_006719895.1:c.678+130C>A XP_006719958.1:n.678+130C>A
XM_006719895.2:c.678+130C>A XP_006719958.1:n.678+130C>A
NM_004795.4:c.1599+130C>A MANE Select NP_004786.2:n.1599+130C>A
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