Canonical Allele Identifier: CA6148055

Gene: KMT5B

Linked Data

• dbSNP Id: rs753470793
• ExAC: 11:67925720 CTCT / C
• gnomAD v2: 11-67925720-CTCT-C
• gnomAD v3: 11-68158253-CTCT-C
• gnomAD v4: 11-68158253-CTCT-C
• COSMIC: COSM1191134 ; COSM5225392 ; COSM5225393
• MyVariant Identifiers: chr11:g.67925721_67925723del (hg19) ; chr11:g.68158254_68158256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68158258_68158260del , CM000673.2:g.68158258_68158260del	GRCh38
NC_000011.9:g.67925725_67925727del , CM000673.1:g.67925725_67925727del	GRCh37
NC_000011.8:g.67682301_67682303del	NCBI36
NG_052873.1:g.60517_60519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.1877_1879del	ENSP00000406377.2:p.Lys626del
ENST00000524672.3:n.2442_2444del
ENST00000700520.1:c.*1714_*1716del	ENSP00000515027.1:n.*1714_*1716del
ENST00000700521.1:c.*1757_*1759del	ENSP00000515028.1:n.*1757_*1759del
ENST00000700522.1:c.*1757_*1759del	ENSP00000515029.1:n.*1757_*1759del
ENST00000700523.1:c.1574_1576del	ENSP00000515030.1:p.Lys525del
ENST00000700524.1:c.*1298_*1300del	ENSP00000515031.1:n.*1298_*1300del
ENST00000304363.9:c.2090_2092del MANE Select	ENSP00000305899.4:p.Lys697del
ENST00000304363.8:c.2090_2092del	ENSP00000305899.4:p.Lys697del
ENST00000441488.6:c.*1298_*1300del	ENSP00000411146.2:n.*1298_*1300del
ENST00000615954.4:c.2090_2092del	ENSP00000484858.1:p.Lys697del
NM_001300907.1:c.1574_1576del	NP_001287836.1:p.Lys525del
NM_001300908.1:c.1370_1372del	NP_001287837.1:p.Lys457del
NM_017635.4:c.2090_2092del	NP_060105.3:p.Lys697del
XM_005274035.2:c.2090_2092del	XP_005274092.2:p.Lys697del
XM_005274036.2:c.2021_2023del	XP_005274093.2:p.Lys674del
XM_005274037.1:c.1574_1576del	XP_005274094.1:p.Lys525del
XM_006718581.1:c.2021_2023del	XP_006718644.1:p.Lys674del
XM_011545091.1:c.2090_2092del	XP_011543393.1:p.Lys697del
XM_011545092.1:c.1877_1879del	XP_011543394.1:p.Lys626del
XM_011545093.1:c.848_850del	XP_011543395.1:p.Lys283del
XM_005274035.4:c.2090_2092del	XP_005274092.2:p.Lys697del
XM_005274036.4:c.2021_2023del	XP_005274093.2:p.Lys674del
XM_006718581.2:c.2021_2023del	XP_006718644.1:p.Lys674del
XM_011545092.3:c.1877_1879del	XP_011543394.1:p.Lys626del
XM_017017876.2:c.1574_1576del	XP_016873365.1:p.Lys525del
XM_017017877.2:c.1574_1576del	XP_016873366.1:p.Lys525del
XM_017017878.2:c.1574_1576del	XP_016873367.1:p.Lys525del
XM_017017879.2:c.1574_1576del	XP_016873368.1:p.Lys525del
XM_024448570.1:c.848_850del	XP_024304338.1:p.Lys283del
NM_017635.5:c.2090_2092del MANE Select	NP_060105.3:p.Lys697del
NM_001300908.2:c.1370_1372del	NP_001287837.1:p.Lys457del
NM_001369426.1:c.2090_2092del	NP_001356355.1:p.Lys697del
NM_001369428.1:c.1574_1576del	NP_001356357.1:p.Lys525del
NM_001369429.1:c.1574_1576del	NP_001356358.1:p.Lys525del
NM_001369430.1:c.1574_1576del	NP_001356359.1:p.Lys525del
NM_001369431.1:c.1574_1576del	NP_001356360.1:p.Lys525del
NM_001369432.1:c.1574_1576del	NP_001356361.1:p.Lys525del
NM_001369433.1:c.1574_1576del	NP_001356362.1:p.Lys525del