Canonical Allele Identifier: CA2083135943
Gene: KL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055538_33055544delinsAAAGCAT , CM000675.2:g.33055538_33055544delinsAAAGCAT GRCh38
NC_000013.10:g.33629675_33629681delinsAAAGCAT , CM000675.1:g.33629675_33629681delinsAAAGCAT GRCh37
NC_000013.9:g.32527675_32527681delinsAAAGCAT NCBI36
NG_011485.1:g.44105_44111delinsAAAGCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+223_1599+229delinsAAAGCAT MANE Select ENSP00000369442.3:n.1599+223_1599+229delinsAAAGCAT
ENST00000380099.3:c.1599+223_1599+229delinsAAAGCAT ENSP00000369442.3:n.1599+223_1599+229delinsAAAGCAT
ENST00000487852.1:n.1657+173_1657+179delinsAAAGCAT
NM_004795.3:c.1599+223_1599+229delinsAAAGCAT NP_004786.2:n.1599+223_1599+229delinsAAAGCAT
XM_006719895.1:c.678+223_678+229delinsAAAGCAT XP_006719958.1:n.678+223_678+229delinsAAAGCAT
XM_006719895.2:c.678+223_678+229delinsAAAGCAT XP_006719958.1:n.678+223_678+229delinsAAAGCAT
NM_004795.4:c.1599+223_1599+229delinsAAAGCAT MANE Select NP_004786.2:n.1599+223_1599+229delinsAAAGCAT