Canonical Allele Identifier: CA2603229811

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134339642
• gnomAD v3: 11-118491407-GTGT-G
• gnomAD v4: 11-118491407-GTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491412_118491414del , CM000673.2:g.118491412_118491414del	GRCh38
NC_000011.9:g.118362127_118362129del , CM000673.1:g.118362127_118362129del	GRCh37
NC_000011.8:g.117867337_117867339del	NCBI36
NG_027813.1:g.59923_59925del , LRG_613:g.59923_59925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4918+94_4918+96del	ENSP00000432391.3:n.4918+94_4918+96del
ENST00000710560.1:c.4909+103_4909+105del	ENSP00000518343.1:n.4909+103_4909+105del
ENST00000685498.1:c.595+94_595+96del	ENSP00000509293.1:n.595+94_595+96del
ENST00000691053.1:c.4810+103_4810+105del	ENSP00000509168.1:n.4810+103_4810+105del
ENST00000389506.10:c.4810+103_4810+105del	ENSP00000374157.5:n.4810+103_4810+105del
ENST00000534358.8:c.4819+94_4819+96del MANE Select	ENSP00000436786.2:n.4819+94_4819+96del
ENST00000649699.1:c.4696+103_4696+105del	ENSP00000496927.1:n.4696+103_4696+105del
ENST00000389506.9:c.4810+103_4810+105del	ENSP00000374157.5:n.4810+103_4810+105del
ENST00000392873.3:c.946+103_946+105del	ENSP00000376612.3:n.946+103_946+105del
ENST00000534358.5:c.4819+94_4819+96del	ENSP00000436786.1:n.4819+94_4819+96del
NM_001197104.1:c.4819+94_4819+96del , LRG_613t1:c.4819+94_4819+96del	NP_001184033.1:n.4819+94_4819+96del
NM_005933.3:c.4810+103_4810+105del	NP_005924.2:n.4810+103_4810+105del
XM_006718839.2:c.2302+94_2302+96del	XP_006718902.2:n.2302+94_2302+96del
XM_011542829.1:c.4918+94_4918+96del	XP_011541131.1:n.4918+94_4918+96del
XM_011542830.1:c.4915+94_4915+96del	XP_011541132.1:n.4915+94_4915+96del
XM_011542831.1:c.4909+103_4909+105del	XP_011541133.1:n.4909+103_4909+105del
XM_011542832.1:c.2725+94_2725+96del	XP_011541134.1:n.2725+94_2725+96del
XM_011542833.1:c.2401+94_2401+96del	XP_011541135.1:n.2401+94_2401+96del
XM_006718839.3:c.2302+94_2302+96del	XP_006718902.2:n.2302+94_2302+96del
XM_011542829.2:c.4918+94_4918+96del	XP_011541131.1:n.4918+94_4918+96del
XM_011542830.2:c.4915+94_4915+96del	XP_011541132.1:n.4915+94_4915+96del
XM_011542831.2:c.4909+103_4909+105del	XP_011541133.1:n.4909+103_4909+105del
XM_011542833.2:c.2401+94_2401+96del	XP_011541135.1:n.2401+94_2401+96del
NM_001197104.2:c.4819+94_4819+96del MANE Select	NP_001184033.1:n.4819+94_4819+96del
NM_005933.4:c.4810+103_4810+105del	NP_005924.2:n.4810+103_4810+105del