Canonical Allele Identifier: CA1748724524
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957988_142957989delinsGA , CM000669.2:g.142957988_142957989delinsGA GRCh38
NC_000007.13:g.142655075_142655076delinsGA , CM000669.1:g.142655075_142655076delinsGA GRCh37
NC_000007.12:g.142365197_142365198delinsGA NCBI36
NG_007492.1:g.9428_9429delinsTC
NG_007492.2:g.9428_9429delinsTC
NG_007492.3:g.9428_9429delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-16_526-15delinsTC MANE Select ENSP00000347409.2:n.526-16_526-15delinsTC
ENST00000467543.6:c.*378-16_*378-15delinsTC ENSP00000420011.2:n.*378-16_*378-15delinsTC
ENST00000355265.6:c.526-16_526-15delinsTC ENSP00000347409.2:n.526-16_526-15delinsTC
ENST00000467543.5:c.469-16_469-15delinsTC ENSP00000420011.1:n.469-16_469-15delinsTC
ENST00000476829.5:c.525+315_525+316delinsTC ENSP00000419889.1:n.525+315_525+316delinsTC
ENST00000479768.6:n.644-16_644-15delinsTC
ENST00000494148.1:n.125-16_125-15delinsTC
NM_000420.2:c.526-16_526-15delinsTC NP_000411.1:n.526-16_526-15delinsTC
XM_005249993.2:c.562-16_562-15delinsTC XP_005250050.1:n.562-16_562-15delinsTC
NM_000420.3:c.526-16_526-15delinsTC MANE Select NP_000411.1:n.526-16_526-15delinsTC