Canonical Allele Identifier: CA2618608248

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49039081-CAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039084_49039087del , CM000674.2:g.49039084_49039087del	GRCh38
NC_000012.11:g.49432867_49432870del , CM000674.1:g.49432867_49432870del	GRCh37
NC_000012.10:g.47719134_47719137del	NCBI36
NG_027827.1:g.21240_21243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.66-96_66-93del
ENST00000683543.2:c.8367-96_8367-93del	ENSP00000506726.1:n.8367-96_8367-93del
ENST00000685166.1:c.8376-96_8376-93del	ENSP00000509386.1:n.8376-96_8376-93del
ENST00000689143.1:c.2039+137_2039+140del	ENSP00000509839.1:n.2039+137_2039+140del
ENST00000692637.1:c.8364-96_8364-93del	ENSP00000509666.1:n.8364-96_8364-93del
ENST00000301067.12:c.8367-96_8367-93del MANE Select	ENSP00000301067.7:n.8367-96_8367-93del
ENST00000301067.11:c.8367-96_8367-93del	ENSP00000301067.7:n.8367-96_8367-93del
ENST00000549799.1:n.78+137_78+140del
NM_003482.3:c.8367-96_8367-93del	NP_003473.3:n.8367-96_8367-93del
XM_005269162.3:c.8367-96_8367-93del	XP_005269219.1:n.8367-96_8367-93del
XM_006719614.2:c.8376-96_8376-93del	XP_006719677.1:n.8376-96_8376-93del
XM_006719616.2:c.8364-96_8364-93del	XP_006719679.1:n.8364-96_8364-93del
XM_011538770.1:c.8376-96_8376-93del	XP_011537072.1:n.8376-96_8376-93del
XM_011538771.1:c.8373-96_8373-93del	XP_011537073.1:n.8373-96_8373-93del
XM_011538772.1:c.8367-96_8367-93del	XP_011537074.1:n.8367-96_8367-93del
XM_011538773.1:c.8364-96_8364-93del	XP_011537075.1:n.8364-96_8364-93del
XM_011538774.1:c.8355-96_8355-93del	XP_011537076.1:n.8355-96_8355-93del
XM_011538775.1:c.8376-96_8376-93del	XP_011537077.1:n.8376-96_8376-93del
XM_011538776.1:c.8283-96_8283-93del	XP_011537078.1:n.8283-96_8283-93del
XR_944740.1:n.10696-96_10696-93del
XM_005269162.4:c.8367-96_8367-93del	XP_005269219.1:n.8367-96_8367-93del
XM_006719614.4:c.8376-96_8376-93del	XP_006719677.1:n.8376-96_8376-93del
XM_006719616.3:c.8364-96_8364-93del	XP_006719679.1:n.8364-96_8364-93del
XM_011538770.2:c.8376-96_8376-93del	XP_011537072.1:n.8376-96_8376-93del
XM_011538771.2:c.8373-96_8373-93del	XP_011537073.1:n.8373-96_8373-93del
XM_011538772.2:c.8367-96_8367-93del	XP_011537074.1:n.8367-96_8367-93del
XM_011538773.2:c.8364-96_8364-93del	XP_011537075.1:n.8364-96_8364-93del
XM_011538774.2:c.8355-96_8355-93del	XP_011537076.1:n.8355-96_8355-93del
XM_011538776.2:c.8283-96_8283-93del	XP_011537078.1:n.8283-96_8283-93del
XR_001748874.1:n.9685-96_9685-93del
NM_003482.4:c.8367-96_8367-93del MANE Select	NP_003473.3:n.8367-96_8367-93del