Canonical Allele Identifier: CA1748724609
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958192G= , CM000669.2:g.142958192G= GRCh38
NC_000007.13:g.142655279G= , CM000669.1:g.142655279G= GRCh37
NC_000007.12:g.142365401G= NCBI36
NG_007492.1:g.9225C=
NG_007492.2:g.9225C=
NG_007492.3:g.9225C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.525+112C= MANE Select ENSP00000347409.2:n.525+112C=
ENST00000467543.6:c.*377+112C= ENSP00000420011.2:n.*377+112C=
ENST00000355265.6:c.525+112C= ENSP00000347409.2:n.525+112C=
ENST00000467543.5:c.468+112C= ENSP00000420011.1:n.468+112C=
ENST00000476829.5:c.525+112C= ENSP00000419889.1:n.525+112C=
ENST00000479768.6:n.643+112C=
ENST00000494148.1:n.124+112C=
NM_000420.2:c.525+112C= NP_000411.1:n.525+112C=
XM_005249993.2:c.561+112C= XP_005250050.1:n.561+112C=
NM_000420.3:c.525+112C= MANE Select NP_000411.1:n.525+112C=