Canonical Allele Identifier: CA915947782

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 817715
• ClinVar RCV Id: RCV001008926
• dbSNP Id: rs1591281522

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503118_118503129delinsTTATG , CM000673.2:g.118503118_118503129delinsTTATG	GRCh38
NC_000011.9:g.118373833_118373844delinsTTATG , CM000673.1:g.118373833_118373844delinsTTATG	GRCh37
NC_000011.8:g.117879043_117879054delinsTTATG	NCBI36
NG_027813.1:g.71629_71640delinsTTATG , LRG_613:g.71629_71640delinsTTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7325_7336delinsTTATG	ENSP00000432391.3:p.Gly2442ValfsTer?
ENST00000710560.1:c.7316_7327delinsTTATG	ENSP00000518343.1:p.Gly2439ValfsTer?
ENST00000649878.2:c.1265_1276delinsTTATG	ENSP00000497891.2:p.Gly422ValfsTer?
ENST00000685397.1:c.1265_1276delinsTTATG	ENSP00000509586.1:p.Gly422ValfsTer?
ENST00000686370.1:c.1265_1276delinsTTATG	ENSP00000509179.1:p.Gly422ValfsTer?
ENST00000689424.1:c.1523_1534delinsTTATG	ENSP00000509852.1:p.Gly508ValfsTer?
ENST00000691053.1:c.7298_7309delinsTTATG	ENSP00000509168.1:p.Gly2433ValfsTer?
ENST00000389506.10:c.7217_7228delinsTTATG	ENSP00000374157.5:p.Gly2406ValfsTer?
ENST00000528278.2:n.6568_6579delinsTTATG
ENST00000534358.8:c.7226_7237delinsTTATG MANE Select	ENSP00000436786.2:p.Gly2409ValfsTer?
ENST00000649699.1:c.7103_7114delinsTTATG	ENSP00000496927.1:p.Gly2368ValfsTer?
ENST00000389506.9:c.7217_7228delinsTTATG	ENSP00000374157.5:p.Gly2406ValfsTer?
ENST00000528278.1:n.1353_1364delinsTTATG
ENST00000534358.5:c.7226_7237delinsTTATG	ENSP00000436786.1:p.Gly2409ValfsTer?
NM_001197104.1:c.7226_7237delinsTTATG , LRG_613t1:c.7226_7237delinsTTATG	NP_001184033.1:p.Gly2409ValfsTer?
NM_005933.3:c.7217_7228delinsTTATG	NP_005924.2:p.Gly2406ValfsTer?
XM_006718839.2:c.4709_4720delinsTTATG	XP_006718902.2:p.Gly1570ValfsTer?
XM_011542829.1:c.7325_7336delinsTTATG	XP_011541131.1:p.Gly2442ValfsTer?
XM_011542830.1:c.7322_7333delinsTTATG	XP_011541132.1:p.Gly2441ValfsTer?
XM_011542831.1:c.7316_7327delinsTTATG	XP_011541133.1:p.Gly2439ValfsTer?
XM_011542832.1:c.5132_5143delinsTTATG	XP_011541134.1:p.Gly1711ValfsTer?
XM_011542833.1:c.4808_4819delinsTTATG	XP_011541135.1:p.Gly1603ValfsTer?
XM_006718839.3:c.4709_4720delinsTTATG	XP_006718902.2:p.Gly1570ValfsTer?
XM_011542829.2:c.7325_7336delinsTTATG	XP_011541131.1:p.Gly2442ValfsTer?
XM_011542830.2:c.7322_7333delinsTTATG	XP_011541132.1:p.Gly2441ValfsTer?
XM_011542831.2:c.7316_7327delinsTTATG	XP_011541133.1:p.Gly2439ValfsTer?
XM_011542833.2:c.4808_4819delinsTTATG	XP_011541135.1:p.Gly1603ValfsTer?
NM_001197104.2:c.7226_7237delinsTTATG MANE Select	NP_001184033.1:p.Gly2409ValfsTer?
NM_005933.4:c.7217_7228delinsTTATG	NP_005924.2:p.Gly2406ValfsTer?