Canonical Allele Identifier: CA2685721884

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148866-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148870_152148871del , CM000669.2:g.152148870_152148871del	GRCh38
NC_000007.13:g.151845955_151845956del , CM000669.1:g.151845955_151845956del	GRCh37
NC_000007.12:g.151476888_151476889del	NCBI36
NG_033948.1:g.292138_292139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1247_1248del
ENST00000682116.1:n.2191_2192del
ENST00000682283.1:c.13230_13231del	ENSP00000507485.1:p.Gly4411AsnfsTer14
ENST00000682629.1:n.2359_2360del
ENST00000683120.1:n.8251_8252del
ENST00000683178.1:c.3632_3633del
ENST00000683200.1:c.10569_10570del	ENSP00000508052.1:p.Gly3524AsnfsTer14
ENST00000683337.1:n.4689_4690del
ENST00000683502.1:c.3704_3705del
ENST00000683621.1:n.1825_1826del
ENST00000683640.1:n.1775_1776del
ENST00000684069.1:c.1476_1477del	ENSP00000507650.1:p.Gly493AsnfsTer14
ENST00000684261.1:c.7956_7957del	ENSP00000508097.1:p.Gly2653AsnfsTer14
ENST00000684649.1:c.3704_3705del
ENST00000262189.11:c.13059_13060del MANE Select	ENSP00000262189.6:p.Gly4354AsnfsTer14
ENST00000360104.8:c.8846_8847del
ENST00000418061.2:c.3701_3702del
ENST00000424877.6:c.3635_3636del
ENST00000679393.1:n.7770_7771del
ENST00000679560.1:c.7959_7960del	ENSP00000505094.1:p.Gly2654AsnfsTer14
ENST00000679882.1:c.12624_12625del	ENSP00000506154.1:p.Gly4209AsnfsTer14
ENST00000680029.1:c.3636_3637del
ENST00000680877.1:c.7959_7960del	ENSP00000505724.1:p.Gly2654AsnfsTer14
ENST00000681923.1:n.2074_2075del
ENST00000262189.10:c.13059_13060del	ENSP00000262189.6:p.Gly4354AsnfsTer14
ENST00000355193.6:c.13059_13060del	ENSP00000347325.3:p.Gly4354AsnfsTer14
ENST00000360104.7:c.5740_5741del
ENST00000424877.5:c.2910_2911del	ENSP00000410411.1:p.Gly971AsnfsTer14
ENST00000473186.5:n.10941_10942del
ENST00000558084.5:c.*10579_*10580del	ENSP00000453752.1:n.*10579_*10580del
NM_170606.2:c.13059_13060del	NP_733751.2:p.Gly4354AsnfsTer14
XM_005250025.3:c.13275_13276del	XP_005250082.1:p.Gly4426AsnfsTer14
XM_005250026.2:c.13272_13273del	XP_005250083.1:p.Gly4425AsnfsTer14
XM_005250027.3:c.13272_13273del	XP_005250084.1:p.Gly4425AsnfsTer14
XM_005250028.3:c.13275_13276del	XP_005250085.1:p.Gly4426AsnfsTer14
XM_005250031.3:c.13110_13111del	XP_005250088.1:p.Gly4371AsnfsTer14
XM_006716077.2:c.13272_13273del	XP_006716140.1:p.Gly4425AsnfsTer14
XM_006716078.2:c.13203_13204del	XP_006716141.1:p.Gly4402AsnfsTer14
XM_006716079.2:c.13107_13108del	XP_006716142.1:p.Gly4370AsnfsTer14
XM_011516450.1:c.13227_13228del	XP_011514752.1:p.Gly4410AsnfsTer14
XM_011516451.1:c.13155_13156del	XP_011514753.1:p.Gly4386AsnfsTer14
XM_011516452.1:c.13122_13123del	XP_011514754.1:p.Gly4375AsnfsTer14
XM_011516453.1:c.13038_13039del	XP_011514755.1:p.Gly4347AsnfsTer14
XM_011516454.1:c.12360_12361del	XP_011514756.1:p.Gly4121AsnfsTer14
XM_011516455.1:c.10821_10822del	XP_011514757.1:p.Gly3608AsnfsTer14
XM_011516456.1:c.13227_13228del	XP_011514758.1:p.Gly4410AsnfsTer14
XM_005250025.4:c.13275_13276del	XP_005250082.1:p.Gly4426AsnfsTer14
XM_005250026.3:c.13272_13273del	XP_005250083.1:p.Gly4425AsnfsTer14
XM_005250027.4:c.13272_13273del	XP_005250084.1:p.Gly4425AsnfsTer14
XM_005250028.4:c.13275_13276del	XP_005250085.1:p.Gly4426AsnfsTer14
XM_005250031.4:c.13110_13111del	XP_005250088.1:p.Gly4371AsnfsTer14
XM_006716077.3:c.13272_13273del	XP_006716140.1:p.Gly4425AsnfsTer14
XM_006716078.3:c.13203_13204del	XP_006716141.1:p.Gly4402AsnfsTer14
XM_006716079.3:c.13107_13108del	XP_006716142.1:p.Gly4370AsnfsTer14
XM_011516450.2:c.13227_13228del	XP_011514752.1:p.Gly4410AsnfsTer14
XM_011516451.2:c.13155_13156del	XP_011514753.1:p.Gly4386AsnfsTer14
XM_011516452.2:c.13122_13123del	XP_011514754.1:p.Gly4375AsnfsTer14
XM_011516453.2:c.13038_13039del	XP_011514755.1:p.Gly4347AsnfsTer14
XM_011516454.2:c.12360_12361del	XP_011514756.1:p.Gly4121AsnfsTer14
XM_011516456.2:c.13227_13228del	XP_011514758.1:p.Gly4410AsnfsTer14
XM_017012480.1:c.13275_13276del	XP_016867969.1:p.Gly4426AsnfsTer14
XM_017012481.1:c.13272_13273del	XP_016867970.1:p.Gly4425AsnfsTer14
XM_017012482.1:c.13272_13273del	XP_016867971.1:p.Gly4425AsnfsTer14
XM_017012483.1:c.13272_13273del	XP_016867972.1:p.Gly4425AsnfsTer14
XM_017012484.1:c.13242_13243del	XP_016867973.1:p.Gly4415AsnfsTer14
XM_017012485.1:c.13224_13225del	XP_016867974.1:p.Gly4409AsnfsTer14
XM_017012486.1:c.13200_13201del	XP_016867975.1:p.Gly4401AsnfsTer14
XM_017012487.1:c.13128_13129del	XP_016867976.1:p.Gly4377AsnfsTer14
XM_017012488.1:c.13092_13093del	XP_016867977.1:p.Gly4365AsnfsTer14
XM_017012489.1:c.9945_9946del	XP_016867978.1:p.Gly3316AsnfsTer14
XM_017012490.2:c.9549_9550del	XP_016867979.1:p.Gly3184AsnfsTer14
XM_024446852.1:c.13272_13273del	XP_024302620.1:p.Gly4425AsnfsTer14
XM_024446853.1:c.13200_13201del	XP_024302621.1:p.Gly4401AsnfsTer14
NM_170606.3:c.13059_13060del MANE Select	NP_733751.2:p.Gly4354AsnfsTer14