Canonical Allele Identifier: CA2695216766

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030897_49030975del , CM000674.2:g.49030897_49030975del	GRCh38
NC_000012.11:g.49424680_49424758del , CM000674.1:g.49424680_49424758del	GRCh37
NC_000012.10:g.47710947_47711025del	NCBI36
NG_027827.1:g.29356_29434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.295_371+2del
ENST00000683543.2:c.13595_13671+2del
ENST00000685166.1:c.13604_13680+2del
ENST00000685982.1:c.139-201_139-123del	ENSP00000508613.1:n.139-201_139-123del
ENST00000691986.1:c.138+206_138+284del	ENSP00000509196.1:n.138+206_138+284del
ENST00000692637.1:c.13592_13668+2del
ENST00000692973.1:c.196_272+2del
ENST00000301067.12:c.13595_13671+2del
ENST00000301067.11:c.13595_13671+2del
ENST00000552391.1:n.295_371+2del
NM_003482.3:c.13595_13671+2del
XM_005269162.3:c.13595_13671+2del
XM_006719614.2:c.13604_13680+2del
XM_006719616.2:c.13592_13668+2del
XM_011538770.1:c.13604_13680+2del
XM_011538771.1:c.13601_13677+2del
XM_011538772.1:c.13595_13671+2del
XM_011538773.1:c.13592_13668+2del
XM_011538774.1:c.13583_13659+2del
XM_011538775.1:c.13604_13680+2del
XM_011538776.1:c.13511_13587+2del
XR_944740.1:n.15924_16000+2del
XM_005269162.4:c.13595_13671+2del
XM_006719614.4:c.13604_13680+2del
XM_006719616.3:c.13592_13668+2del
XM_011538770.2:c.13604_13680+2del
XM_011538771.2:c.13601_13677+2del
XM_011538772.2:c.13595_13671+2del
XM_011538773.2:c.13592_13668+2del
XM_011538774.2:c.13583_13659+2del
XM_011538776.2:c.13511_13587+2del
XR_001748874.1:n.14913_14989+2del
NM_003482.4:c.13595_13671+2del