Canonical Allele Identifier: CA915953031
Community Standard Title: NM_014727.3(KMT2B):c.15_24dup (p.Ser9GlyfsTer?)
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35718033_35718042dup , CM000681.2:g.35718033_35718042dup GRCh38
NC_000019.9:g.36208935_36208944dup , CM000681.1:g.36208935_36208944dup GRCh37
NC_000019.8:g.40900775_40900784dup NCBI36
NG_052906.1:g.5015_5024dup

Transcript Alleles

HGVS Amino-acid Change
NM_014727.3:c.15_24dup MANE Select NP_055542.1:p.Ser9GlyfsTer?
ENST00000420124.4:c.15_24dup MANE Select ENSP00000398837.2:p.Ser9GlyfsTer?
NM_014727.2:c.15_24dup NP_055542.1:p.Ser9GlyfsTer?
ENST00000420124.2:c.15_24dup ENSP00000398837.1:p.Ser9GlyfsTer?
ENST00000673918.1:c.15_24dup ENSP00000501283.1:p.Ser9GlyfsTer?
ENST00000673918.2:c.15_24dup ENSP00000501283.1:p.Ser9GlyfsTer?
ENST00000687718.1:c.15_24dup ENSP00000510535.1:p.Ser9GlyfsTer?
ENST00000692961.1:c.15_24dup ENSP00000509289.1:p.Ser9GlyfsTer?
XM_011527561.1:c.15_24dup XP_011525863.1:p.Ser9GlyfsTer?
XM_011527562.1:c.15_24dup XP_011525864.1:p.Ser9GlyfsTer?
XM_011527562.2:c.15_24dup XP_011525864.1:p.Ser9GlyfsTer?
XM_011527563.1:c.15_24dup XP_011525865.1:p.Ser9GlyfsTer?
XM_017027544.1:c.15_24dup XP_016883033.1:p.Ser9GlyfsTer?
XR_935878.1:n.39_48dup
XR_935878.2:n.216_225dup