Canonical Allele Identifier: CA1748722857
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954173G= , CM000669.2:g.142954173G= GRCh38
NC_000007.13:g.142651260G= , CM000669.1:g.142651260G= GRCh37
NC_000007.12:g.142361382G= NCBI36
NG_007492.1:g.13244C=
NG_007492.2:g.13244C=
NG_007492.3:g.13244C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.924+11C= MANE Select ENSP00000347409.2:n.924+11C=
ENST00000355265.6:c.924+11C= ENSP00000347409.2:n.924+11C=
ENST00000479768.6:n.1042+11C=
NM_000420.2:c.924+11C= NP_000411.1:n.924+11C=
XM_005249993.2:c.960+11C= XP_005250050.1:n.960+11C=
XM_005249994.3:c.-24+11C= XP_005250051.1:n.-24+11C=
NM_000420.3:c.924+11C= MANE Select NP_000411.1:n.924+11C=