Canonical Allele Identifier: CA2333795033
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733766_35733775delinsCCTCCAGGAA , CM000681.2:g.35733766_35733775delinsCCTCCAGGAA GRCh38
NC_000019.9:g.36224667_36224676delinsCCTCCAGGAA , CM000681.1:g.36224667_36224676delinsCCTCCAGGAA GRCh37
NC_000019.8:g.40916507_40916516delinsCCTCCAGGAA NCBI36
NG_052906.1:g.20748_20757delinsCCTCCAGGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000592092.2:n.1523_1532delinsCCTCCAGGAA
ENST00000673918.2:c.6987_6996delinsCCTCCAGGAA ENSP00000501283.1:p.Pro2329=
ENST00000674114.2:c.4594_4603delinsCCTCCAGGAA ENSP00000501039.2:n.4594_4603delinsCCTCCA...
ENST00000684977.1:c.2248_2257delinsCCTCCAGGAA ENSP00000509384.1:n.2248_2257delinsCCTCCA...
ENST00000689544.1:n.2294_2303delinsCCTCCAGGAA
ENST00000689929.1:c.4_13delinsCCTCCAGGAA
ENST00000691421.1:c.2184_2193delinsCCTCCAGGAA ENSP00000508674.1:p.Pro728=
ENST00000691855.1:c.6595_6604delinsCCTCCAGGAA
ENST00000692961.1:c.6977_6986delinsCCTCCAGGAA ENSP00000509289.1:p.Pro2326=
ENST00000693175.1:c.4_13delinsCCTCCAGGAA
ENST00000693677.1:c.798_807delinsCCTCCAGGAA ENSP00000509779.1:p.Pro266=
ENST00000420124.4:c.7053_7062delinsCCTCCAGGAA MANE Select ENSP00000398837.2:p.Pro2351=
ENST00000673918.1:c.6987_6996delinsCCTCCAGGAA ENSP00000501283.1:p.Pro2329=
ENST00000674114.1:c.4375_4384delinsCCTCCAGGAA
ENST00000420124.2:c.7053_7062delinsCCTCCAGGAA ENSP00000398837.1:p.Pro2351=
ENST00000592092.1:n.433_442delinsCCTCCAGGAA
NM_014727.2:c.7053_7062delinsCCTCCAGGAA NP_055542.1:p.Pro2351=
XM_011527561.1:c.6987_6996delinsCCTCCAGGAA XP_011525863.1:p.Pro2329=
XM_011527562.1:c.7053_7062delinsCCTCCAGGAA XP_011525864.1:p.Pro2351=
XM_011527563.1:c.6777_6786delinsCCTCCAGGAA XP_011525865.1:p.Pro2259=
XM_011527561.2:c.6489_6498delinsCCTCCAGGAA XP_011525863.2:p.Pro2163=
XM_011527562.2:c.7053_7062delinsCCTCCAGGAA XP_011525864.1:p.Pro2351=
XM_017027544.1:c.6963_6972delinsCCTCCAGGAA XP_016883033.1:p.Pro2321=
XM_017027545.1:c.6489_6498delinsCCTCCAGGAA XP_016883034.1:p.Pro2163=
XM_017027546.1:c.4017_4026delinsCCTCCAGGAA XP_016883035.1:p.Pro1339=
NM_014727.3:c.7053_7062delinsCCTCCAGGAA MANE Select NP_055542.1:p.Pro2351=