Canonical Allele Identifier: CA2034963008

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022117_49022119delinsCCA , CM000674.2:g.49022117_49022119delinsCCA	GRCh38
NC_000012.11:g.49415900_49415902delinsCCA , CM000674.1:g.49415900_49415902delinsCCA	GRCh37
NC_000012.10:g.47702167_47702169delinsCCA	NCBI36
NG_027827.1:g.38206_38208delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.415_417delinsTGG
ENST00000681974.1:n.1117_1119delinsTGG
ENST00000682693.1:n.2079_2081delinsTGG
ENST00000682886.1:n.851_853delinsTGG
ENST00000683543.2:c.16493_16495delinsTGG	ENSP00000506726.1:p.Val5498=
ENST00000683988.1:c.416_418delinsTGG	ENSP00000506939.1:p.Val139=
ENST00000684428.1:c.1038_1040delinsTGG	ENSP00000507433.1:n.1038_1040delinsTGG
ENST00000685024.1:c.1599_1601delinsTGG
ENST00000685166.1:c.16454_16456delinsTGG	ENSP00000509386.1:p.Val5485=
ENST00000691932.1:c.446_448delinsTGG	ENSP00000509037.1:p.Val149=
ENST00000692637.1:c.16442_16444delinsTGG	ENSP00000509666.1:p.Val5481=
ENST00000301067.12:c.16445_16447delinsTGG MANE Select	ENSP00000301067.7:p.Val5482=
ENST00000301067.11:c.16445_16447delinsTGG	ENSP00000301067.7:p.Val5482=
ENST00000526209.1:c.488_490delinsTGG	ENSP00000435714.1:p.Val163=
NM_003482.3:c.16445_16447delinsTGG	NP_003473.3:p.Val5482=
XM_005269162.3:c.16445_16447delinsTGG	XP_005269219.1:p.Val5482=
XM_006719614.2:c.16454_16456delinsTGG	XP_006719677.1:p.Val5485=
XM_006719616.2:c.16442_16444delinsTGG	XP_006719679.1:p.Val5481=
XM_011538770.1:c.16502_16504delinsTGG	XP_011537072.1:p.Val5501=
XM_011538771.1:c.16499_16501delinsTGG	XP_011537073.1:p.Val5500=
XM_011538772.1:c.16493_16495delinsTGG	XP_011537074.1:p.Val5498=
XM_011538773.1:c.16490_16492delinsTGG	XP_011537075.1:p.Val5497=
XM_011538774.1:c.16481_16483delinsTGG	XP_011537076.1:p.Val5494=
XM_011538775.1:c.16436_16438delinsTGG	XP_011537077.1:p.Val5479=
XM_011538776.1:c.16409_16411delinsTGG	XP_011537078.1:p.Val5470=
XM_005269162.4:c.16445_16447delinsTGG	XP_005269219.1:p.Val5482=
XM_006719614.4:c.16454_16456delinsTGG	XP_006719677.1:p.Val5485=
XM_006719616.3:c.16442_16444delinsTGG	XP_006719679.1:p.Val5481=
XM_011538770.2:c.16502_16504delinsTGG	XP_011537072.1:p.Val5501=
XM_011538771.2:c.16499_16501delinsTGG	XP_011537073.1:p.Val5500=
XM_011538772.2:c.16493_16495delinsTGG	XP_011537074.1:p.Val5498=
XM_011538773.2:c.16490_16492delinsTGG	XP_011537075.1:p.Val5497=
XM_011538774.2:c.16481_16483delinsTGG	XP_011537076.1:p.Val5494=
XM_011538776.2:c.16409_16411delinsTGG	XP_011537078.1:p.Val5470=
XR_001748874.1:n.16622_16624delinsTGG
NM_003482.4:c.16445_16447delinsTGG MANE Select	NP_003473.3:p.Val5482=