Canonical Allele Identifier: CA1748724602
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958179C= , CM000669.2:g.142958179C= GRCh38
NC_000007.13:g.142655266C= , CM000669.1:g.142655266C= GRCh37
NC_000007.12:g.142365388C= NCBI36
NG_007492.1:g.9238G=
NG_007492.2:g.9238G=
NG_007492.3:g.9238G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.525+125G= MANE Select ENSP00000347409.2:n.525+125G=
ENST00000467543.6:c.*377+125G= ENSP00000420011.2:n.*377+125G=
ENST00000355265.6:c.525+125G= ENSP00000347409.2:n.525+125G=
ENST00000467543.5:c.468+125G= ENSP00000420011.1:n.468+125G=
ENST00000476829.5:c.525+125G= ENSP00000419889.1:n.525+125G=
ENST00000479768.6:n.643+125G=
ENST00000494148.1:n.124+125G=
NM_000420.2:c.525+125G= NP_000411.1:n.525+125G=
XM_005249993.2:c.561+125G= XP_005250050.1:n.561+125G=
NM_000420.3:c.525+125G= MANE Select NP_000411.1:n.525+125G=