Canonical Allele Identifier: CA2083135902

Gene: KL

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055504_33055508delinsCTTGT , CM000675.2:g.33055504_33055508delinsCTTGT	GRCh38
NC_000013.10:g.33629641_33629645delinsCTTGT , CM000675.1:g.33629641_33629645delinsCTTGT	GRCh37
NC_000013.9:g.32527641_32527645delinsCTTGT	NCBI36
NG_011485.1:g.44071_44075delinsCTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1599+189_1599+193delinsCTTGT MANE Select	ENSP00000369442.3:n.1599+189_1599+193delinsCTTGT
ENST00000380099.3:c.1599+189_1599+193delinsCTTGT	ENSP00000369442.3:n.1599+189_1599+193delinsCTTGT
ENST00000487852.1:n.1657+139_1657+143delinsCTTGT
NM_004795.3:c.1599+189_1599+193delinsCTTGT	NP_004786.2:n.1599+189_1599+193delinsCTTGT
XM_006719895.1:c.678+189_678+193delinsCTTGT	XP_006719958.1:n.678+189_678+193delinsCTTGT
XM_006719895.2:c.678+189_678+193delinsCTTGT	XP_006719958.1:n.678+189_678+193delinsCTTGT
NM_004795.4:c.1599+189_1599+193delinsCTTGT MANE Select	NP_004786.2:n.1599+189_1599+193delinsCTTGT