Canonical Allele Identifier: CA2695216412

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039483_49039495del , CM000674.2:g.49039483_49039495del	GRCh38
NC_000012.11:g.49433266_49433278del , CM000674.1:g.49433266_49433278del	GRCh37
NC_000012.10:g.47719533_47719545del	NCBI36
NG_027827.1:g.20833_20845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8172_8184del	ENSP00000506726.1:p.Ser2725LeufsTer4
ENST00000685166.1:c.8181_8193del	ENSP00000509386.1:p.Ser2728LeufsTer4
ENST00000689060.1:c.2191_2203del
ENST00000689143.1:c.1845_1857del	ENSP00000509839.1:p.Ser616LeufsTer4
ENST00000689944.1:c.2281_2293del
ENST00000692637.1:c.8169_8181del	ENSP00000509666.1:p.Ser2724LeufsTer4
ENST00000301067.12:c.8172_8184del MANE Select	ENSP00000301067.7:p.Ser2725LeufsTer4
ENST00000301067.11:c.8172_8184del	ENSP00000301067.7:p.Ser2725LeufsTer4
NM_003482.3:c.8172_8184del	NP_003473.3:p.Ser2725LeufsTer4
XM_005269162.3:c.8172_8184del	XP_005269219.1:p.Ser2725LeufsTer4
XM_006719614.2:c.8181_8193del	XP_006719677.1:p.Ser2728LeufsTer4
XM_006719616.2:c.8169_8181del	XP_006719679.1:p.Ser2724LeufsTer4
XM_011538770.1:c.8181_8193del	XP_011537072.1:p.Ser2728LeufsTer4
XM_011538771.1:c.8178_8190del	XP_011537073.1:p.Ser2727LeufsTer4
XM_011538772.1:c.8172_8184del	XP_011537074.1:p.Ser2725LeufsTer4
XM_011538773.1:c.8169_8181del	XP_011537075.1:p.Ser2724LeufsTer4
XM_011538774.1:c.8160_8172del	XP_011537076.1:p.Ser2721LeufsTer4
XM_011538775.1:c.8181_8193del	XP_011537077.1:p.Ser2728LeufsTer4
XM_011538776.1:c.8088_8100del	XP_011537078.1:p.Ser2697LeufsTer4
XR_944740.1:n.10501_10513del
XM_005269162.4:c.8172_8184del	XP_005269219.1:p.Ser2725LeufsTer4
XM_006719614.4:c.8181_8193del	XP_006719677.1:p.Ser2728LeufsTer4
XM_006719616.3:c.8169_8181del	XP_006719679.1:p.Ser2724LeufsTer4
XM_011538770.2:c.8181_8193del	XP_011537072.1:p.Ser2728LeufsTer4
XM_011538771.2:c.8178_8190del	XP_011537073.1:p.Ser2727LeufsTer4
XM_011538772.2:c.8172_8184del	XP_011537074.1:p.Ser2725LeufsTer4
XM_011538773.2:c.8169_8181del	XP_011537075.1:p.Ser2724LeufsTer4
XM_011538774.2:c.8160_8172del	XP_011537076.1:p.Ser2721LeufsTer4
XM_011538776.2:c.8088_8100del	XP_011537078.1:p.Ser2697LeufsTer4
XR_001748874.1:n.9490_9502del
NM_003482.4:c.8172_8184del MANE Select	NP_003473.3:p.Ser2725LeufsTer4