Canonical Allele Identifier: CA1748724579
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958110C= , CM000669.2:g.142958110C= GRCh38
NC_000007.13:g.142655197C= , CM000669.1:g.142655197C= GRCh37
NC_000007.12:g.142365319C= NCBI36
NG_007492.1:g.9307G=
NG_007492.2:g.9307G=
NG_007492.3:g.9307G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-137G= MANE Select ENSP00000347409.2:n.526-137G=
ENST00000467543.6:c.*378-137G= ENSP00000420011.2:n.*378-137G=
ENST00000355265.6:c.526-137G= ENSP00000347409.2:n.526-137G=
ENST00000467543.5:c.469-137G= ENSP00000420011.1:n.469-137G=
ENST00000476829.5:c.525+194G= ENSP00000419889.1:n.525+194G=
ENST00000479768.6:n.644-137G=
ENST00000494148.1:n.125-137G=
NM_000420.2:c.526-137G= NP_000411.1:n.526-137G=
XM_005249993.2:c.562-137G= XP_005250050.1:n.562-137G=
NM_000420.3:c.526-137G= MANE Select NP_000411.1:n.526-137G=