Canonical Allele Identifier: CA2795893004

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039470_49039471insTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAAC , CM000674.2:g.49039470_49039471insTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAAC	GRCh38
NC_000012.11:g.49433253_49433254insTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAAC , CM000674.1:g.49433253_49433254insTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAAC	GRCh37
NC_000012.10:g.47719520_47719521insTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAAC	NCBI36
NG_027827.1:g.20854_20855insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	ENSP00000506726.1:p.Leu2732ValfsTer5
ENST00000685166.1:c.8202_8203insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	ENSP00000509386.1:p.Leu2735ValfsTer5
ENST00000689060.1:c.2212_2213insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA
ENST00000689143.1:c.1866_1867insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	ENSP00000509839.1:p.Leu623ValfsTer5
ENST00000689944.1:c.2302_2303insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA
ENST00000692637.1:c.8190_8191insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	ENSP00000509666.1:p.Leu2731ValfsTer5
ENST00000301067.12:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA MANE Select	ENSP00000301067.7:p.Leu2732ValfsTer5
ENST00000301067.11:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	ENSP00000301067.7:p.Leu2732ValfsTer5
NM_003482.3:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	NP_003473.3:p.Leu2732ValfsTer5
XM_005269162.3:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_005269219.1:p.Leu2732ValfsTer5
XM_006719614.2:c.8202_8203insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_006719677.1:p.Leu2735ValfsTer5
XM_006719616.2:c.8190_8191insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_006719679.1:p.Leu2731ValfsTer5
XM_011538770.1:c.8202_8203insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537072.1:p.Leu2735ValfsTer5
XM_011538771.1:c.8199_8200insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537073.1:p.Leu2734ValfsTer5
XM_011538772.1:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537074.1:p.Leu2732ValfsTer5
XM_011538773.1:c.8190_8191insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537075.1:p.Leu2731ValfsTer5
XM_011538774.1:c.8181_8182insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537076.1:p.Leu2728ValfsTer5
XM_011538775.1:c.8202_8203insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537077.1:p.Leu2735ValfsTer5
XM_011538776.1:c.8109_8110insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537078.1:p.Leu2704ValfsTer5
XR_944740.1:n.10522_10523insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA
XM_005269162.4:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_005269219.1:p.Leu2732ValfsTer5
XM_006719614.4:c.8202_8203insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_006719677.1:p.Leu2735ValfsTer5
XM_006719616.3:c.8190_8191insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_006719679.1:p.Leu2731ValfsTer5
XM_011538770.2:c.8202_8203insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537072.1:p.Leu2735ValfsTer5
XM_011538771.2:c.8199_8200insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537073.1:p.Leu2734ValfsTer5
XM_011538772.2:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537074.1:p.Leu2732ValfsTer5
XM_011538773.2:c.8190_8191insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537075.1:p.Leu2731ValfsTer5
XM_011538774.2:c.8181_8182insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537076.1:p.Leu2728ValfsTer5
XM_011538776.2:c.8109_8110insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA	XP_011537078.1:p.Leu2704ValfsTer5
XR_001748874.1:n.9511_9512insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA
NM_003482.4:c.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA MANE Select	NP_003473.3:p.Leu2732ValfsTer5