Canonical Allele Identifier: CA954735910

Gene: KL

Linked Data

• dbSNP Id: rs1871926544
• gnomAD v3: 13-33055504-CTTGT-C
• gnomAD v4: 13-33055504-CTTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055507_33055510del , CM000675.2:g.33055507_33055510del	GRCh38
NC_000013.10:g.33629644_33629647del , CM000675.1:g.33629644_33629647del	GRCh37
NC_000013.9:g.32527644_32527647del	NCBI36
NG_011485.1:g.44074_44077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1599+192_1599+195del MANE Select	ENSP00000369442.3:n.1599+192_1599+195del
ENST00000380099.3:c.1599+192_1599+195del	ENSP00000369442.3:n.1599+192_1599+195del
ENST00000487852.1:n.1657+142_1657+145del
NM_004795.3:c.1599+192_1599+195del	NP_004786.2:n.1599+192_1599+195del
XM_006719895.1:c.678+192_678+195del	XP_006719958.1:n.678+192_678+195del
XM_006719895.2:c.678+192_678+195del	XP_006719958.1:n.678+192_678+195del
NM_004795.4:c.1599+192_1599+195del MANE Select	NP_004786.2:n.1599+192_1599+195del