Canonical Allele Identifier: CA2333793129

Gene: KMT2B

Linked Data

• dbSNP Id: rs1969633553
• gnomAD v4: 19-35730137-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730140_35730141del , CM000681.2:g.35730140_35730141del	GRCh38
NC_000019.9:g.36221041_36221042del , CM000681.1:g.36221041_36221042del	GRCh37
NC_000019.8:g.40912881_40912882del	NCBI36
NG_052906.1:g.17122_17123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.5010+15_5010+16del	ENSP00000501283.1:n.5010+15_5010+16del
ENST00000674114.2:c.2617+15_2617+16del	ENSP00000501039.2:n.2617+15_2617+16del
ENST00000684977.1:c.294+15_294+16del	ENSP00000509384.1:n.294+15_294+16del
ENST00000685168.1:c.502+15_502+16del
ENST00000689544.1:n.229+15_229+16del
ENST00000691421.1:c.297+15_297+16del	ENSP00000508674.1:n.297+15_297+16del
ENST00000691855.1:c.4618+15_4618+16del
ENST00000692961.1:c.5076+15_5076+16del	ENSP00000509289.1:n.5076+15_5076+16del
ENST00000420124.4:c.5076+15_5076+16del MANE Select	ENSP00000398837.2:n.5076+15_5076+16del
ENST00000673918.1:c.5010+15_5010+16del	ENSP00000501283.1:n.5010+15_5010+16del
ENST00000674114.1:c.2398+15_2398+16del
ENST00000420124.2:c.5076+15_5076+16del	ENSP00000398837.1:n.5076+15_5076+16del
NM_014727.2:c.5076+15_5076+16del	NP_055542.1:n.5076+15_5076+16del
XM_011527561.1:c.5010+15_5010+16del	XP_011525863.1:n.5010+15_5010+16del
XM_011527562.1:c.5076+15_5076+16del	XP_011525864.1:n.5076+15_5076+16del
XM_011527563.1:c.4800+15_4800+16del	XP_011525865.1:n.4800+15_4800+16del
XM_011527561.2:c.4512+15_4512+16del	XP_011525863.2:n.4512+15_4512+16del
XM_011527562.2:c.5076+15_5076+16del	XP_011525864.1:n.5076+15_5076+16del
XM_017027544.1:c.5076+15_5076+16del	XP_016883033.1:n.5076+15_5076+16del
XM_017027545.1:c.4512+15_4512+16del	XP_016883034.1:n.4512+15_4512+16del
XM_017027546.1:c.2040+15_2040+16del	XP_016883035.1:n.2040+15_2040+16del
NM_014727.3:c.5076+15_5076+16del MANE Select	NP_055542.1:n.5076+15_5076+16del