Canonical Allele Identifier: CA2083135933

Gene: KL

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055531_33055532delinsTA , CM000675.2:g.33055531_33055532delinsTA	GRCh38
NC_000013.10:g.33629668_33629669delinsTA , CM000675.1:g.33629668_33629669delinsTA	GRCh37
NC_000013.9:g.32527668_32527669delinsTA	NCBI36
NG_011485.1:g.44098_44099delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1599+216_1599+217delinsTA MANE Select	ENSP00000369442.3:n.1599+216_1599+217delinsTA
ENST00000380099.3:c.1599+216_1599+217delinsTA	ENSP00000369442.3:n.1599+216_1599+217delinsTA
ENST00000487852.1:n.1657+166_1657+167delinsTA
NM_004795.3:c.1599+216_1599+217delinsTA	NP_004786.2:n.1599+216_1599+217delinsTA
XM_006719895.1:c.678+216_678+217delinsTA	XP_006719958.1:n.678+216_678+217delinsTA
XM_006719895.2:c.678+216_678+217delinsTA	XP_006719958.1:n.678+216_678+217delinsTA
NM_004795.4:c.1599+216_1599+217delinsTA MANE Select	NP_004786.2:n.1599+216_1599+217delinsTA