Canonical Allele Identifier: CA942722143

Gene: KMT2A

Linked Data

• dbSNP Id: rs1950111230
• gnomAD v3: 11-118480437-TAATA-T
• gnomAD v4: 11-118480437-TAATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118480441_118480444del , CM000673.2:g.118480441_118480444del	GRCh38
NC_000011.9:g.118351156_118351159del , CM000673.1:g.118351156_118351159del	GRCh37
NC_000011.8:g.117856366_117856369del	NCBI36
NG_027813.1:g.48952_48955del , LRG_613:g.48952_48955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3733+203_3733+206del	ENSP00000432391.3:n.3733+203_3733+206del
ENST00000710560.1:c.3733+203_3733+206del	ENSP00000518343.1:n.3733+203_3733+206del
ENST00000527869.7:c.1216+203_1216+206del	ENSP00000432652.3:n.1216+203_1216+206del
ENST00000533790.3:c.1117+203_1117+206del	ENSP00000436700.3:n.1117+203_1117+206del
ENST00000649690.2:c.1441+203_1441+206del	ENSP00000497372.2:n.1441+203_1441+206del
ENST00000685719.1:c.615+203_615+206del
ENST00000691053.1:c.3634+203_3634+206del	ENSP00000509168.1:n.3634+203_3634+206del
ENST00000389506.10:c.3634+203_3634+206del	ENSP00000374157.5:n.3634+203_3634+206del
ENST00000533790.2:c.886+203_886+206del	ENSP00000436700.2:n.886+203_886+206del
ENST00000534358.8:c.3634+203_3634+206del MANE Select	ENSP00000436786.2:n.3634+203_3634+206del
ENST00000648261.1:c.2404+203_2404+206del	ENSP00000498126.1:n.2404+203_2404+206del
ENST00000649699.1:c.3634+203_3634+206del	ENSP00000496927.1:n.3634+203_3634+206del
ENST00000389506.9:c.3634+203_3634+206del	ENSP00000374157.5:n.3634+203_3634+206del
ENST00000531904.6:c.3733+203_3733+206del	ENSP00000432391.2:n.3733+203_3733+206del
ENST00000534358.5:c.3634+203_3634+206del	ENSP00000436786.1:n.3634+203_3634+206del
NM_001197104.1:c.3634+203_3634+206del , LRG_613t1:c.3634+203_3634+206del	NP_001184033.1:n.3634+203_3634+206del
NM_005933.3:c.3634+203_3634+206del	NP_005924.2:n.3634+203_3634+206del
XM_006718839.2:c.1117+203_1117+206del	XP_006718902.2:n.1117+203_1117+206del
XM_011542829.1:c.3733+203_3733+206del	XP_011541131.1:n.3733+203_3733+206del
XM_011542830.1:c.3733+203_3733+206del	XP_011541132.1:n.3733+203_3733+206del
XM_011542831.1:c.3733+203_3733+206del	XP_011541133.1:n.3733+203_3733+206del
XM_011542832.1:c.1540+203_1540+206del	XP_011541134.1:n.1540+203_1540+206del
XM_011542833.1:c.1216+203_1216+206del	XP_011541135.1:n.1216+203_1216+206del
XM_006718839.3:c.1117+203_1117+206del	XP_006718902.2:n.1117+203_1117+206del
XM_011542829.2:c.3733+203_3733+206del	XP_011541131.1:n.3733+203_3733+206del
XM_011542830.2:c.3733+203_3733+206del	XP_011541132.1:n.3733+203_3733+206del
XM_011542831.2:c.3733+203_3733+206del	XP_011541133.1:n.3733+203_3733+206del
XM_011542833.2:c.1216+203_1216+206del	XP_011541135.1:n.1216+203_1216+206del
NM_001197104.2:c.3634+203_3634+206del MANE Select	NP_001184033.1:n.3634+203_3634+206del
NM_005933.4:c.3634+203_3634+206del	NP_005924.2:n.3634+203_3634+206del