Canonical Allele Identifier: CA645579724

Gene: KMT2D

Linked Data

• COSMIC: COSM5547780 ; COSM5547781

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042267_49042279del , CM000674.2:g.49042267_49042279del	GRCh38
NC_000012.11:g.49436050_49436062del , CM000674.1:g.49436050_49436062del	GRCh37
NC_000012.10:g.47722317_47722329del	NCBI36
NG_027827.1:g.18047_18059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.711_723del
ENST00000683543.2:c.5920_5932del	ENSP00000506726.1:p.Thr1974AlafsTer?
ENST00000685166.1:c.5929_5941del	ENSP00000509386.1:p.Thr1977AlafsTer?
ENST00000689060.1:c.32_44del
ENST00000689944.1:c.32_44del
ENST00000692637.1:c.5917_5929del	ENSP00000509666.1:p.Thr1973AlafsTer?
ENST00000301067.12:c.5920_5932del MANE Select	ENSP00000301067.7:p.Thr1974AlafsTer?
ENST00000301067.11:c.5920_5932del	ENSP00000301067.7:p.Thr1974AlafsTer?
NM_003482.3:c.5920_5932del	NP_003473.3:p.Thr1974AlafsTer?
XM_005269162.3:c.5920_5932del	XP_005269219.1:p.Thr1974AlafsTer?
XM_006719614.2:c.5929_5941del	XP_006719677.1:p.Thr1977AlafsTer?
XM_006719616.2:c.5917_5929del	XP_006719679.1:p.Thr1973AlafsTer?
XM_011538770.1:c.5929_5941del	XP_011537072.1:p.Thr1977AlafsTer?
XM_011538771.1:c.5926_5938del	XP_011537073.1:p.Thr1976AlafsTer?
XM_011538772.1:c.5920_5932del	XP_011537074.1:p.Thr1974AlafsTer?
XM_011538773.1:c.5917_5929del	XP_011537075.1:p.Thr1973AlafsTer?
XM_011538774.1:c.5908_5920del	XP_011537076.1:p.Thr1970AlafsTer?
XM_011538775.1:c.5929_5941del	XP_011537077.1:p.Thr1977AlafsTer?
XM_011538776.1:c.5929_5941del	XP_011537078.1:p.Thr1977AlafsTer?
XR_944740.1:n.8249_8261del
XM_005269162.4:c.5920_5932del	XP_005269219.1:p.Thr1974AlafsTer?
XM_006719614.4:c.5929_5941del	XP_006719677.1:p.Thr1977AlafsTer?
XM_006719616.3:c.5917_5929del	XP_006719679.1:p.Thr1973AlafsTer?
XM_011538770.2:c.5929_5941del	XP_011537072.1:p.Thr1977AlafsTer?
XM_011538771.2:c.5926_5938del	XP_011537073.1:p.Thr1976AlafsTer?
XM_011538772.2:c.5920_5932del	XP_011537074.1:p.Thr1974AlafsTer?
XM_011538773.2:c.5917_5929del	XP_011537075.1:p.Thr1973AlafsTer?
XM_011538774.2:c.5908_5920del	XP_011537076.1:p.Thr1970AlafsTer?
XM_011538776.2:c.5929_5941del	XP_011537078.1:p.Thr1977AlafsTer?
XR_001748874.1:n.7238_7250del
NM_003482.4:c.5920_5932del MANE Select	NP_003473.3:p.Thr1974AlafsTer?