Canonical Allele Identifier: CA2685724268

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152183139-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183141del , CM000669.2:g.152183141del	GRCh38
NC_000007.13:g.151880226del , CM000669.1:g.151880226del	GRCh37
NC_000007.12:g.151511159del	NCBI36
NG_033948.1:g.257866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.1818del
ENST00000682283.1:c.5099del	ENSP00000507485.1:p.Asn1700ThrfsTer17
ENST00000683159.1:c.576-546del
ENST00000683200.1:c.2447del	ENSP00000508052.1:p.Asn816ThrfsTer17
ENST00000262189.11:c.5099del MANE Select	ENSP00000262189.6:p.Asn1700ThrfsTer17
ENST00000360104.8:c.721del
ENST00000679645.1:c.*1192del	ENSP00000505745.1:n.*1192del
ENST00000679882.1:c.4874del	ENSP00000506154.1:p.Asn1625ThrfsTer17
ENST00000680969.1:c.2495del	ENSP00000505951.1:p.Asn832ThrfsTer17
ENST00000681033.1:c.3797del	ENSP00000505058.1:p.Asn1266ThrfsTer17
ENST00000681755.1:n.24del
ENST00000262189.10:c.5099del	ENSP00000262189.6:p.Asn1700ThrfsTer17
ENST00000355193.6:c.5099del	ENSP00000347325.3:p.Asn1700ThrfsTer17
ENST00000473186.5:n.2810del
ENST00000558084.5:c.*2619del	ENSP00000453752.1:n.*2619del
NM_170606.2:c.5099del	NP_733751.2:p.Asn1700ThrfsTer17
XM_005250025.3:c.5150del	XP_005250082.1:p.Asn1717ThrfsTer17
XM_005250026.2:c.5147del	XP_005250083.1:p.Asn1716ThrfsTer17
XM_005250027.3:c.5150del	XP_005250084.1:p.Asn1717ThrfsTer17
XM_005250028.3:c.5150del	XP_005250085.1:p.Asn1717ThrfsTer17
XM_005250031.3:c.5150del	XP_005250088.1:p.Asn1717ThrfsTer17
XM_006716077.2:c.5150del	XP_006716140.1:p.Asn1717ThrfsTer17
XM_006716078.2:c.5150del	XP_006716141.1:p.Asn1717ThrfsTer17
XM_006716079.2:c.5150del	XP_006716142.1:p.Asn1717ThrfsTer17
XM_011516450.1:c.5102del	XP_011514752.1:p.Asn1701ThrfsTer17
XM_011516451.1:c.5030del	XP_011514753.1:p.Asn1677ThrfsTer17
XM_011516452.1:c.4997del	XP_011514754.1:p.Asn1666ThrfsTer17
XM_011516453.1:c.5150del	XP_011514755.1:p.Asn1717ThrfsTer17
XM_011516454.1:c.4235del	XP_011514756.1:p.Asn1412ThrfsTer17
XM_011516455.1:c.2696del	XP_011514757.1:p.Asn899ThrfsTer17
XM_011516456.1:c.5102del	XP_011514758.1:p.Asn1701ThrfsTer17
XR_428183.2:n.5358del
XM_005250025.4:c.5150del	XP_005250082.1:p.Asn1717ThrfsTer17
XM_005250026.3:c.5147del	XP_005250083.1:p.Asn1716ThrfsTer17
XM_005250027.4:c.5150del	XP_005250084.1:p.Asn1717ThrfsTer17
XM_005250028.4:c.5150del	XP_005250085.1:p.Asn1717ThrfsTer17
XM_005250031.4:c.5150del	XP_005250088.1:p.Asn1717ThrfsTer17
XM_006716077.3:c.5150del	XP_006716140.1:p.Asn1717ThrfsTer17
XM_006716078.3:c.5150del	XP_006716141.1:p.Asn1717ThrfsTer17
XM_006716079.3:c.5150del	XP_006716142.1:p.Asn1717ThrfsTer17
XM_011516450.2:c.5102del	XP_011514752.1:p.Asn1701ThrfsTer17
XM_011516451.2:c.5030del	XP_011514753.1:p.Asn1677ThrfsTer17
XM_011516452.2:c.4997del	XP_011514754.1:p.Asn1666ThrfsTer17
XM_011516453.2:c.5150del	XP_011514755.1:p.Asn1717ThrfsTer17
XM_011516454.2:c.4235del	XP_011514756.1:p.Asn1412ThrfsTer17
XM_011516456.2:c.5102del	XP_011514758.1:p.Asn1701ThrfsTer17
XM_017012480.1:c.5150del	XP_016867969.1:p.Asn1717ThrfsTer17
XM_017012481.1:c.5147del	XP_016867970.1:p.Asn1716ThrfsTer17
XM_017012482.1:c.5150del	XP_016867971.1:p.Asn1717ThrfsTer17
XM_017012483.1:c.5150del	XP_016867972.1:p.Asn1717ThrfsTer17
XM_017012484.1:c.5117del	XP_016867973.1:p.Asn1706ThrfsTer17
XM_017012485.1:c.5099del	XP_016867974.1:p.Asn1700ThrfsTer17
XM_017012486.1:c.5150del	XP_016867975.1:p.Asn1717ThrfsTer17
XM_017012487.1:c.5003del	XP_016867976.1:p.Asn1668ThrfsTer17
XM_017012488.1:c.5134-546del	XP_016867977.1:n.5134-546del
XM_017012489.1:c.1820del	XP_016867978.1:p.Asn607ThrfsTer17
XM_017012490.2:c.1424del	XP_016867979.1:p.Asn475ThrfsTer17
XM_024446852.1:c.5147del	XP_024302620.1:p.Asn1716ThrfsTer17
XM_024446853.1:c.5150del	XP_024302621.1:p.Asn1717ThrfsTer17
XR_428183.3:n.5382del
NM_170606.3:c.5099del MANE Select	NP_733751.2:p.Asn1700ThrfsTer17