Canonical Allele Identifier: CA73815795
Community Standard Title: NM_014159.7(SETD2):c.5277+145_5277+148del
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47087992_47087995del , CM000665.2:g.47087992_47087995del GRCh38
NC_000003.11:g.47129482_47129485del , CM000665.1:g.47129482_47129485del GRCh37
NC_000003.10:g.47104486_47104489del NCBI36
NG_032091.1:g.81010_81013del , LRG_775:g.81010_81013del

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.5277+145_5277+148del MANE Select NP_054878.5:n.5277+145_5277+148del
ENST00000409792.4:c.5277+145_5277+148del MANE Select ENSP00000386759.3:n.5277+145_5277+148del
NM_001349370.1:c.5145+145_5145+148del NP_001336299.1:n.5145+145_5145+148del
NM_001349370.2:c.5145+145_5145+148del NP_001336299.1:n.5145+145_5145+148del
NM_001349370.3:c.5145+145_5145+148del NP_001336299.1:n.5145+145_5145+148del
NM_014159.6:c.5277+145_5277+148del , LRG_775t1:c.5277+145_5277+148del NP_054878.5:n.5277+145_5277+148del
NR_146158.1:n.5330+145_5330+148del
NR_146158.2:n.5466+145_5466+148del
NR_146158.3:n.5466+145_5466+148del
ENST00000330022.11:c.5097+145_5097+148del
ENST00000409792.3:c.5277+145_5277+148del ENSP00000386759.3:n.5277+145_5277+148del
ENST00000431180.5:c.4305+145_4305+148del
ENST00000445387.5:c.4177+145_4177+148del
ENST00000638947.1:c.927+145_927+148del ENSP00000491413.1:n.927+145_927+148del
ENST00000638947.2:c.5145+145_5145+148del ENSP00000491413.2:n.5145+145_5145+148del
ENST00000685005.1:c.5044-1654_5044-1651del ENSP00000509568.1:n.5044-1654_5044-1651del
ENST00000685237.1:n.1987-1654_1987-1651del
ENST00000685399.1:c.3157+145_3157+148del
ENST00000685505.1:c.3218+145_3218+148del
ENST00000686773.1:c.3157+145_3157+148del
ENST00000686876.1:c.1993+145_1993+148del
ENST00000688290.1:c.3157+145_3157+148del
ENST00000690157.1:c.2293+145_2293+148del
ENST00000690461.1:c.3441+145_3441+148del ENSP00000509352.1:n.3441+145_3441+148del
ENST00000691544.1:c.333+145_333+148del ENSP00000510710.1:n.333+145_333+148del
ENST00000691902.1:c.1855+18029_1855+18032del
ENST00000692362.1:n.1082+145_1082+148del
ENST00000692883.1:c.3218+145_3218+148del
ENST00000693321.1:c.3157+145_3157+148del
XM_011533631.1:c.5355+145_5355+148del XP_011531933.1:n.5355+145_5355+148del
XM_011533632.1:c.5301+145_5301+148del XP_011531934.1:n.5301+145_5301+148del
XM_011533632.3:c.5301+145_5301+148del XP_011531934.1:n.5301+145_5301+148del
XM_011533633.1:c.5221-1654_5221-1651del XP_011531935.1:n.5221-1654_5221-1651del
XM_011533634.1:c.5145+145_5145+148del XP_011531936.1:n.5145+145_5145+148del
XM_024453487.1:c.5011-1654_5011-1651del XP_024309255.1:n.5011-1654_5011-1651del
XM_024453488.1:c.4845+145_4845+148del XP_024309256.1:n.4845+145_4845+148del
XM_024453489.1:c.*11-1654_*11-1651del XP_024309257.1:n.*11-1654_*11-1651del
XR_001740131.2:n.5030+145_5030+148del
XR_002959510.1:n.5206+145_5206+148del
XR_002959511.1:n.5206+145_5206+148del
XR_002959512.1:n.5206+145_5206+148del
XR_002959513.1:n.5206+145_5206+148del
XR_002959514.1:n.5206+145_5206+148del
XR_002959515.1:n.5072-1654_5072-1651del
XR_002959516.1:n.5108+145_5108+148del
XR_002959517.1:n.5108+145_5108+148del
XR_940418.1:n.5370+145_5370+148del
XR_940419.1:n.5458+145_5458+148del
XR_940420.1:n.5458+145_5458+148del