Canonical Allele Identifier: CA2034945964

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031811_49031827delinsTGTAGATAAGGCTCCTG , CM000674.2:g.49031811_49031827delinsTGTAGATAAGGCTCCTG	GRCh38
NC_000012.11:g.49425594_49425610delinsTGTAGATAAGGCTCCTG , CM000674.1:g.49425594_49425610delinsTGTAGATAAGGCTCCTG	GRCh37
NC_000012.10:g.47711861_47711877delinsTGTAGATAAGGCTCCTG	NCBI36
NG_027827.1:g.28498_28514delinsCAGGAGCCTTATCTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12878_12894delinsCAGGAGCCTTATCTACA	ENSP00000506726.1:p.Pro4293=
ENST00000685166.1:c.12887_12903delinsCAGGAGCCTTATCTACA	ENSP00000509386.1:p.Pro4296=
ENST00000685554.1:c.1753-515_1753-499delinsCAGGAGCCTTATCTACA	ENSP00000508640.1:n.1753-515_1753-499delinsCAGGAGCCTTATCTACA
ENST00000692637.1:c.12875_12891delinsCAGGAGCCTTATCTACA	ENSP00000509666.1:p.Pro4292=
ENST00000692841.1:c.4357_4373delinsCAGGAGCCTTATCTACA	ENSP00000508711.1:n.4357_4373delinsCAGGAGCCTTATCTACA
ENST00000301067.12:c.12878_12894delinsCAGGAGCCTTATCTACA MANE Select	ENSP00000301067.7:p.Pro4293=
ENST00000301067.11:c.12878_12894delinsCAGGAGCCTTATCTACA	ENSP00000301067.7:p.Pro4293=
NM_003482.3:c.12878_12894delinsCAGGAGCCTTATCTACA	NP_003473.3:p.Pro4293=
XM_005269162.3:c.12878_12894delinsCAGGAGCCTTATCTACA	XP_005269219.1:p.Pro4293=
XM_006719614.2:c.12887_12903delinsCAGGAGCCTTATCTACA	XP_006719677.1:p.Pro4296=
XM_006719616.2:c.12875_12891delinsCAGGAGCCTTATCTACA	XP_006719679.1:p.Pro4292=
XM_011538770.1:c.12887_12903delinsCAGGAGCCTTATCTACA	XP_011537072.1:p.Pro4296=
XM_011538771.1:c.12884_12900delinsCAGGAGCCTTATCTACA	XP_011537073.1:p.Pro4295=
XM_011538772.1:c.12878_12894delinsCAGGAGCCTTATCTACA	XP_011537074.1:p.Pro4293=
XM_011538773.1:c.12875_12891delinsCAGGAGCCTTATCTACA	XP_011537075.1:p.Pro4292=
XM_011538774.1:c.12866_12882delinsCAGGAGCCTTATCTACA	XP_011537076.1:p.Pro4289=
XM_011538775.1:c.12887_12903delinsCAGGAGCCTTATCTACA	XP_011537077.1:p.Pro4296=
XM_011538776.1:c.12794_12810delinsCAGGAGCCTTATCTACA	XP_011537078.1:p.Pro4265=
XR_944740.1:n.15207_15223delinsCAGGAGCCTTATCTACA
XM_005269162.4:c.12878_12894delinsCAGGAGCCTTATCTACA	XP_005269219.1:p.Pro4293=
XM_006719614.4:c.12887_12903delinsCAGGAGCCTTATCTACA	XP_006719677.1:p.Pro4296=
XM_006719616.3:c.12875_12891delinsCAGGAGCCTTATCTACA	XP_006719679.1:p.Pro4292=
XM_011538770.2:c.12887_12903delinsCAGGAGCCTTATCTACA	XP_011537072.1:p.Pro4296=
XM_011538771.2:c.12884_12900delinsCAGGAGCCTTATCTACA	XP_011537073.1:p.Pro4295=
XM_011538772.2:c.12878_12894delinsCAGGAGCCTTATCTACA	XP_011537074.1:p.Pro4293=
XM_011538773.2:c.12875_12891delinsCAGGAGCCTTATCTACA	XP_011537075.1:p.Pro4292=
XM_011538774.2:c.12866_12882delinsCAGGAGCCTTATCTACA	XP_011537076.1:p.Pro4289=
XM_011538776.2:c.12794_12810delinsCAGGAGCCTTATCTACA	XP_011537078.1:p.Pro4265=
XR_001748874.1:n.14196_14212delinsCAGGAGCCTTATCTACA
NM_003482.4:c.12878_12894delinsCAGGAGCCTTATCTACA MANE Select	NP_003473.3:p.Pro4293=