Canonical Allele Identifier: CA458279184
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs1586269883
MyVariant Identifiers: chr7:g.142655062del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957977del , CM000669.2:g.142957977del GRCh38
NC_000007.13:g.142655064del , CM000669.1:g.142655064del GRCh37
NC_000007.12:g.142365186del NCBI36
NG_007492.1:g.9442del
NG_007492.2:g.9442del
NG_007492.3:g.9442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-2del MANE Select ENSP00000347409.2:n.526-2del
ENST00000467543.6:c.*378-2del ENSP00000420011.2:n.*378-2del
ENST00000355265.6:c.526-2del ENSP00000347409.2:n.526-2del
ENST00000467543.5:c.469-2del ENSP00000420011.1:n.469-2del
ENST00000476829.5:c.525+329del ENSP00000419889.1:n.525+329del
ENST00000479768.6:n.644-2del
ENST00000494148.1:n.125-2del
NM_000420.2:c.526-2del NP_000411.1:n.526-2del
XM_005249993.2:c.562-2del XP_005250050.1:n.562-2del
NM_000420.3:c.526-2del MANE Select NP_000411.1:n.526-2del