Canonical Allele Identifier: CA73814189

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47085862_47085863del , CM000665.2:g.47085862_47085863del	GRCh38
NC_000003.11:g.47127352_47127353del , CM000665.1:g.47127352_47127353del	GRCh37
NC_000003.10:g.47102356_47102357del	NCBI36
NG_032091.1:g.83118_83119del , LRG_775:g.83118_83119del

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5397+335_5397+336del MANE Select	NP_054878.5:n.5397+335_5397+336del
ENST00000409792.4:c.5397+335_5397+336del MANE Select	ENSP00000386759.3:n.5397+335_5397+336del
NM_001349370.1:c.5265+335_5265+336del	NP_001336299.1:n.5265+335_5265+336del
NM_001349370.2:c.5265+335_5265+336del	NP_001336299.1:n.5265+335_5265+336del
NM_001349370.3:c.5265+335_5265+336del	NP_001336299.1:n.5265+335_5265+336del
NM_014159.6:c.5397+335_5397+336del , LRG_775t1:c.5397+335_5397+336del	NP_054878.5:n.5397+335_5397+336del
NR_146158.1:n.5450+335_5450+336del
NR_146158.2:n.5586+335_5586+336del
NR_146158.3:n.5586+335_5586+336del
ENST00000330022.11:c.5217+335_5217+336del
ENST00000409792.3:c.5397+335_5397+336del	ENSP00000386759.3:n.5397+335_5397+336del
ENST00000431180.5:c.4425+335_4425+336del
ENST00000445387.5:c.4297+335_4297+336del
ENST00000638947.1:c.1047+335_1047+336del	ENSP00000491413.1:n.1047+335_1047+336del
ENST00000638947.2:c.5265+335_5265+336del	ENSP00000491413.2:n.5265+335_5265+336del
ENST00000685005.1:c.5163+335_5163+336del	ENSP00000509568.1:n.5163+335_5163+336del
ENST00000685237.1:n.2106+335_2106+336del
ENST00000685399.1:c.3277+335_3277+336del
ENST00000685505.1:c.3338+335_3338+336del
ENST00000686773.1:c.3277+335_3277+336del
ENST00000686876.1:c.2113+335_2113+336del
ENST00000688290.1:c.3277+335_3277+336del
ENST00000690157.1:c.2413+335_2413+336del
ENST00000690461.1:c.3561+335_3561+336del	ENSP00000509352.1:n.3561+335_3561+336del
ENST00000691544.1:c.453+335_453+336del	ENSP00000510710.1:n.453+335_453+336del
ENST00000691902.1:c.1856-18742_1856-18741del
ENST00000692362.1:n.1202+335_1202+336del
ENST00000692883.1:c.3338+335_3338+336del
ENST00000693321.1:c.3277+335_3277+336del
ENST00000693738.1:n.504+335_504+336del
XM_011533631.1:c.5475+335_5475+336del	XP_011531933.1:n.5475+335_5475+336del
XM_011533632.1:c.5421+335_5421+336del	XP_011531934.1:n.5421+335_5421+336del
XM_011533632.3:c.5421+335_5421+336del	XP_011531934.1:n.5421+335_5421+336del
XM_011533633.1:c.5340+335_5340+336del	XP_011531935.1:n.5340+335_5340+336del
XM_011533634.1:c.5265+335_5265+336del	XP_011531936.1:n.5265+335_5265+336del
XM_024453487.1:c.5130+335_5130+336del	XP_024309255.1:n.5130+335_5130+336del
XM_024453488.1:c.4965+335_4965+336del	XP_024309256.1:n.4965+335_4965+336del
XR_001740131.2:n.5150+335_5150+336del
XR_002959510.1:n.5326+335_5326+336del
XR_002959511.1:n.5326+335_5326+336del
XR_002959512.1:n.5326+335_5326+336del
XR_002959513.1:n.5326+335_5326+336del
XR_002959514.1:n.5326+335_5326+336del
XR_002959515.1:n.5191+335_5191+336del
XR_002959516.1:n.5228+335_5228+336del
XR_002959517.1:n.5228+335_5228+336del
XR_940418.1:n.5490+335_5490+336del
XR_940419.1:n.5578+335_5578+336del
XR_940420.1:n.5578+335_5578+336del