Canonical Allele Identifier: CA2685364802
Gene: KEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958162del , CM000669.2:g.142958162del GRCh38
NC_000007.13:g.142655249del , CM000669.1:g.142655249del GRCh37
NC_000007.12:g.142365371del NCBI36
NG_007492.1:g.9255del
NG_007492.2:g.9255del
NG_007492.3:g.9255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.525+142del MANE Select ENSP00000347409.2:n.525+142del
ENST00000467543.6:c.*377+142del ENSP00000420011.2:n.*377+142del
ENST00000355265.6:c.525+142del ENSP00000347409.2:n.525+142del
ENST00000467543.5:c.468+142del ENSP00000420011.1:n.468+142del
ENST00000476829.5:c.525+142del ENSP00000419889.1:n.525+142del
ENST00000479768.6:n.643+142del
ENST00000494148.1:n.124+142del
NM_000420.2:c.525+142del NP_000411.1:n.525+142del
XM_005249993.2:c.561+142del XP_005250050.1:n.561+142del
NM_000420.3:c.525+142del MANE Select NP_000411.1:n.525+142del