Canonical Allele Identifier: CA16619278
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 421746
ClinVar RCV Id: RCV000482022
dbSNP Id: rs1064795340

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491205_118491206insAAACTCTCTG , CM000673.2:g.118491205_118491206insAAACTCTCTG GRCh38
NC_000011.9:g.118361920_118361921insAAACTCTCTG , CM000673.1:g.118361920_118361921insAAACTCTCTG GRCh37
NC_000011.8:g.117867130_117867131insAAACTCTCTG NCBI36
NG_027813.1:g.59716_59717insAAACTCTCTG , LRG_613:g.59716_59717insAAACTCTCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.4805_4806insAAACTCTCTG ENSP00000432391.3:p.Cys1602Ter
ENST00000710560.1:c.4805_4806insAAACTCTCTG ENSP00000518343.1:p.Cys1602Ter
ENST00000685498.1:c.482_483insAAACTCTCTG ENSP00000509293.1:p.Cys161Ter
ENST00000691053.1:c.4706_4707insAAACTCTCTG ENSP00000509168.1:p.Cys1569Ter
ENST00000389506.10:c.4706_4707insAAACTCTCTG ENSP00000374157.5:p.Cys1569Ter
ENST00000534358.8:c.4706_4707insAAACTCTCTG MANE Select ENSP00000436786.2:p.Cys1569Ter
ENST00000649699.1:c.4592_4593insAAACTCTCTG ENSP00000496927.1:p.Cys1531Ter
ENST00000389506.9:c.4706_4707insAAACTCTCTG ENSP00000374157.5:p.Cys1569Ter
ENST00000392873.3:c.842_843insAAACTCTCTG ENSP00000376612.3:p.Cys281Ter
ENST00000534358.5:c.4706_4707insAAACTCTCTG ENSP00000436786.1:p.Cys1569Ter
NM_001197104.1:c.4706_4707insAAACTCTCTG , LRG_613t1:c.4706_4707insAAACTCTCTG NP_001184033.1:p.Cys1569Ter
NM_005933.3:c.4706_4707insAAACTCTCTG NP_005924.2:p.Cys1569Ter
XM_006718839.2:c.2189_2190insAAACTCTCTG XP_006718902.2:p.Cys730Ter
XM_011542829.1:c.4805_4806insAAACTCTCTG XP_011541131.1:p.Cys1602Ter
XM_011542830.1:c.4802_4803insAAACTCTCTG XP_011541132.1:p.Cys1601Ter
XM_011542831.1:c.4805_4806insAAACTCTCTG XP_011541133.1:p.Cys1602Ter
XM_011542832.1:c.2612_2613insAAACTCTCTG XP_011541134.1:p.Cys871Ter
XM_011542833.1:c.2288_2289insAAACTCTCTG XP_011541135.1:p.Cys763Ter
XM_006718839.3:c.2189_2190insAAACTCTCTG XP_006718902.2:p.Cys730Ter
XM_011542829.2:c.4805_4806insAAACTCTCTG XP_011541131.1:p.Cys1602Ter
XM_011542830.2:c.4802_4803insAAACTCTCTG XP_011541132.1:p.Cys1601Ter
XM_011542831.2:c.4805_4806insAAACTCTCTG XP_011541133.1:p.Cys1602Ter
XM_011542833.2:c.2288_2289insAAACTCTCTG XP_011541135.1:p.Cys763Ter
NM_001197104.2:c.4706_4707insAAACTCTCTG MANE Select NP_001184033.1:p.Cys1569Ter
NM_005933.4:c.4706_4707insAAACTCTCTG NP_005924.2:p.Cys1569Ter