Canonical Allele Identifier: CA954735923

Gene: KL

Linked Data

• dbSNP Id: rs1871928177
• gnomAD v3: 13-33055538-AAAGCAT-A
• gnomAD v4: 13-33055538-AAAGCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055540_33055545del , CM000675.2:g.33055540_33055545del	GRCh38
NC_000013.10:g.33629677_33629682del , CM000675.1:g.33629677_33629682del	GRCh37
NC_000013.9:g.32527677_32527682del	NCBI36
NG_011485.1:g.44107_44112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1599+225_1599+230del MANE Select	ENSP00000369442.3:n.1599+225_1599+230del
ENST00000380099.3:c.1599+225_1599+230del	ENSP00000369442.3:n.1599+225_1599+230del
ENST00000487852.1:n.1657+175_1657+180del
NM_004795.3:c.1599+225_1599+230del	NP_004786.2:n.1599+225_1599+230del
XM_006719895.1:c.678+225_678+230del	XP_006719958.1:n.678+225_678+230del
XM_006719895.2:c.678+225_678+230del	XP_006719958.1:n.678+225_678+230del
NM_004795.4:c.1599+225_1599+230del MANE Select	NP_004786.2:n.1599+225_1599+230del