Canonical Allele Identifier: CA236389

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 191274
• ClinVar RCV Id: RCV000171465 ; RCV001029947
• dbSNP Id: rs797044565
• MyVariant Identifiers: chr11:g.118374172_118374175del (hg19) ; chr11:g.118503457_118503460del (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503459_118503462del , CM000673.2:g.118503459_118503462del	GRCh38
NC_000011.9:g.118374174_118374177del , CM000673.1:g.118374174_118374177del	GRCh37
NC_000011.8:g.117879384_117879387del	NCBI36
NG_027813.1:g.71970_71973del , LRG_613:g.71970_71973del

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7666_7669del	ENSP00000432391.3:p.Val2556LysfsTer2
ENST00000710560.1:c.7657_7660del	ENSP00000518343.1:p.Val2553LysfsTer2
ENST00000649878.2:c.1606_1609del	ENSP00000497891.2:p.Val536LysfsTer2
ENST00000685397.1:c.1606_1609del	ENSP00000509586.1:p.Val536LysfsTer2
ENST00000686370.1:c.1606_1609del	ENSP00000509179.1:p.Val536LysfsTer2
ENST00000689424.1:c.1864_1867del	ENSP00000509852.1:p.Val622LysfsTer2
ENST00000691053.1:c.7639_7642del	ENSP00000509168.1:p.Val2547LysfsTer2
ENST00000389506.10:c.7558_7561del	ENSP00000374157.5:p.Val2520LysfsTer2
ENST00000528278.2:n.6909_6912del
ENST00000534358.8:c.7567_7570del MANE Select	ENSP00000436786.2:p.Val2523LysfsTer2
ENST00000649699.1:c.7444_7447del	ENSP00000496927.1:p.Val2482LysfsTer2
ENST00000389506.9:c.7558_7561del	ENSP00000374157.5:p.Val2520LysfsTer2
ENST00000528278.1:n.1694_1697del
ENST00000534358.5:c.7567_7570del	ENSP00000436786.1:p.Val2523LysfsTer2
NM_001197104.1:c.7567_7570del , LRG_613t1:c.7567_7570del	NP_001184033.1:p.Val2523LysfsTer2
NM_005933.3:c.7558_7561del	NP_005924.2:p.Val2520LysfsTer2
XM_006718839.2:c.5050_5053del	XP_006718902.2:p.Val1684LysfsTer2
XM_011542829.1:c.7666_7669del	XP_011541131.1:p.Val2556LysfsTer2
XM_011542830.1:c.7663_7666del	XP_011541132.1:p.Val2555LysfsTer2
XM_011542831.1:c.7657_7660del	XP_011541133.1:p.Val2553LysfsTer2
XM_011542832.1:c.5473_5476del	XP_011541134.1:p.Val1825LysfsTer2
XM_011542833.1:c.5149_5152del	XP_011541135.1:p.Val1717LysfsTer2
XM_006718839.3:c.5050_5053del	XP_006718902.2:p.Val1684LysfsTer2
XM_011542829.2:c.7666_7669del	XP_011541131.1:p.Val2556LysfsTer2
XM_011542830.2:c.7663_7666del	XP_011541132.1:p.Val2555LysfsTer2
XM_011542831.2:c.7657_7660del	XP_011541133.1:p.Val2553LysfsTer2
XM_011542833.2:c.5149_5152del	XP_011541135.1:p.Val1717LysfsTer2
NM_001197104.2:c.7567_7570del MANE Select	NP_001184033.1:p.Val2523LysfsTer2
NM_005933.4:c.7558_7561del	NP_005924.2:p.Val2520LysfsTer2