Canonical Allele Identifier: CA1748724595
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958154G= , CM000669.2:g.142958154G= GRCh38
NC_000007.13:g.142655241G= , CM000669.1:g.142655241G= GRCh37
NC_000007.12:g.142365363G= NCBI36
NG_007492.1:g.9263C=
NG_007492.2:g.9263C=
NG_007492.3:g.9263C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.525+150C= MANE Select ENSP00000347409.2:n.525+150C=
ENST00000467543.6:c.*377+150C= ENSP00000420011.2:n.*377+150C=
ENST00000355265.6:c.525+150C= ENSP00000347409.2:n.525+150C=
ENST00000467543.5:c.468+150C= ENSP00000420011.1:n.468+150C=
ENST00000476829.5:c.525+150C= ENSP00000419889.1:n.525+150C=
ENST00000479768.6:n.643+150C=
ENST00000494148.1:n.124+150C=
NM_000420.2:c.525+150C= NP_000411.1:n.525+150C=
XM_005249993.2:c.561+150C= XP_005250050.1:n.561+150C=
NM_000420.3:c.525+150C= MANE Select NP_000411.1:n.525+150C=