Canonical Allele Identifier: CA6545375

Gene: KMT2D

Linked Data

• dbSNP Id: rs771463671
• ExAC: 12:49416028 GACCACTAAATCCCT / G
• gnomAD v2: 12-49416028-GACCACTAAATCCCT-G
• gnomAD v4: 12-49022245-GACCACTAAATCCCT-G
• MyVariant Identifiers: chr12:g.49416029_49416042del (hg19) ; chr12:g.49022246_49022259del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022246_49022259del , CM000674.2:g.49022246_49022259del	GRCh38
NC_000012.11:g.49416029_49416042del , CM000674.1:g.49416029_49416042del	GRCh37
NC_000012.10:g.47702296_47702309del	NCBI36
NG_027827.1:g.38066_38079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.382+21_382+34del
ENST00000681974.1:n.1084+21_1084+34del
ENST00000682693.1:n.2046+21_2046+34del
ENST00000682886.1:n.818+21_818+34del
ENST00000683543.2:c.16460+21_16460+34del	ENSP00000506726.1:n.16460+21_16460+34del
ENST00000683988.1:c.383+21_383+34del	ENSP00000506939.1:n.383+21_383+34del
ENST00000684428.1:c.1005+21_1005+34del	ENSP00000507433.1:n.1005+21_1005+34del
ENST00000685024.1:c.1566+21_1566+34del
ENST00000685166.1:c.16421+21_16421+34del	ENSP00000509386.1:n.16421+21_16421+34del
ENST00000691932.1:c.413+21_413+34del	ENSP00000509037.1:n.413+21_413+34del
ENST00000692637.1:c.16409+21_16409+34del	ENSP00000509666.1:n.16409+21_16409+34del
ENST00000301067.12:c.16412+21_16412+34del MANE Select	ENSP00000301067.7:n.16412+21_16412+34del
ENST00000301067.11:c.16412+21_16412+34del	ENSP00000301067.7:n.16412+21_16412+34del
ENST00000526209.1:c.455+21_455+34del	ENSP00000435714.1:n.455+21_455+34del
NM_003482.3:c.16412+21_16412+34del	NP_003473.3:n.16412+21_16412+34del
XM_005269162.3:c.16412+21_16412+34del	XP_005269219.1:n.16412+21_16412+34del
XM_006719614.2:c.16421+21_16421+34del	XP_006719677.1:n.16421+21_16421+34del
XM_006719616.2:c.16409+21_16409+34del	XP_006719679.1:n.16409+21_16409+34del
XM_011538770.1:c.16469+21_16469+34del	XP_011537072.1:n.16469+21_16469+34del
XM_011538771.1:c.16466+21_16466+34del	XP_011537073.1:n.16466+21_16466+34del
XM_011538772.1:c.16460+21_16460+34del	XP_011537074.1:n.16460+21_16460+34del
XM_011538773.1:c.16457+21_16457+34del	XP_011537075.1:n.16457+21_16457+34del
XM_011538774.1:c.16448+21_16448+34del	XP_011537076.1:n.16448+21_16448+34del
XM_011538775.1:c.16403+21_16403+34del	XP_011537077.1:n.16403+21_16403+34del
XM_011538776.1:c.16376+21_16376+34del	XP_011537078.1:n.16376+21_16376+34del
XM_005269162.4:c.16412+21_16412+34del	XP_005269219.1:n.16412+21_16412+34del
XM_006719614.4:c.16421+21_16421+34del	XP_006719677.1:n.16421+21_16421+34del
XM_006719616.3:c.16409+21_16409+34del	XP_006719679.1:n.16409+21_16409+34del
XM_011538770.2:c.16469+21_16469+34del	XP_011537072.1:n.16469+21_16469+34del
XM_011538771.2:c.16466+21_16466+34del	XP_011537073.1:n.16466+21_16466+34del
XM_011538772.2:c.16460+21_16460+34del	XP_011537074.1:n.16460+21_16460+34del
XM_011538773.2:c.16457+21_16457+34del	XP_011537075.1:n.16457+21_16457+34del
XM_011538774.2:c.16448+21_16448+34del	XP_011537076.1:n.16448+21_16448+34del
XM_011538776.2:c.16376+21_16376+34del	XP_011537078.1:n.16376+21_16376+34del
XR_001748874.1:n.16589+21_16589+34del
NM_003482.4:c.16412+21_16412+34del MANE Select	NP_003473.3:n.16412+21_16412+34del