Canonical Allele Identifier: CA647866

Gene: UBR4

Linked Data

• dbSNP Id: rs553369721
• ExAC: 1:19404231 AAAACCAAACC / A
• gnomAD v2: 1-19404231-AAAACCAAACC-A
• gnomAD v3: 1-19077737-AAAACCAAACC-A
• gnomAD v4: 1-19077737-AAAACCAAACC-A
• MyVariant Identifiers: chr1:g.19404232_19404241del (hg19) ; chr1:g.19077738_19077747del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19077752_19077761del , CM000663.2:g.19077752_19077761del	GRCh38
NC_000001.10:g.19404246_19404255del , CM000663.1:g.19404246_19404255del	GRCh37
NC_000001.9:g.19276833_19276842del	NCBI36
NG_027669.1:g.137506_137515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15324+229_15324+238del MANE Select	ENSP00000364403.3:n.15324+229_15324+238del
ENST00000375224.1:c.2445+229_2445+238del	ENSP00000364372.1:n.2445+229_2445+238del
ENST00000375225.7:c.549+229_549+238del	ENSP00000364373.3:n.549+229_549+238del
ENST00000375254.7:c.15324+229_15324+238del	ENSP00000364403.3:n.15324+229_15324+238del
ENST00000459947.5:n.3331+229_3331+238del
ENST00000486515.1:n.43+38_43+47del
NM_020765.2:c.15324+229_15324+238del	NP_065816.2:n.15324+229_15324+238del
XM_011541108.1:c.15477+229_15477+238del	XP_011539410.1:n.15477+229_15477+238del
XM_011541109.1:c.15474+229_15474+238del	XP_011539411.1:n.15474+229_15474+238del
XM_011541110.1:c.15474+229_15474+238del	XP_011539412.1:n.15474+229_15474+238del
XM_011541111.1:c.15474+229_15474+238del	XP_011539413.1:n.15474+229_15474+238del
XM_011541112.1:c.15462+229_15462+238del	XP_011539414.1:n.15462+229_15462+238del
XM_011541113.1:c.15459+229_15459+238del	XP_011539415.1:n.15459+229_15459+238del
XM_011541114.1:c.15459+229_15459+238del	XP_011539416.1:n.15459+229_15459+238del
XM_011541115.1:c.15453+229_15453+238del	XP_011539417.1:n.15453+229_15453+238del
XM_011541116.1:c.15444+229_15444+238del	XP_011539418.1:n.15444+229_15444+238del
XM_011541117.1:c.15393+229_15393+238del	XP_011539419.1:n.15393+229_15393+238del
XM_011541118.1:c.15390+229_15390+238del	XP_011539420.1:n.15390+229_15390+238del
XM_011541119.1:c.15357+229_15357+238del	XP_011539421.1:n.15357+229_15357+238del
XM_011541120.1:c.15354+229_15354+238del	XP_011539422.1:n.15354+229_15354+238del
XM_011541121.1:c.15321+229_15321+238del	XP_011539423.1:n.15321+229_15321+238del
XM_011541108.3:c.15591+229_15591+238del	XP_011539410.2:n.15591+229_15591+238del
XM_011541109.3:c.15588+229_15588+238del	XP_011539411.2:n.15588+229_15588+238del
XM_011541110.3:c.15588+229_15588+238del	XP_011539412.2:n.15588+229_15588+238del
XM_011541111.3:c.15588+229_15588+238del	XP_011539413.2:n.15588+229_15588+238del
XM_011541112.3:c.15576+229_15576+238del	XP_011539414.2:n.15576+229_15576+238del
XM_011541113.3:c.15573+229_15573+238del	XP_011539415.2:n.15573+229_15573+238del
XM_011541114.3:c.15573+229_15573+238del	XP_011539416.2:n.15573+229_15573+238del
XM_011541115.3:c.15567+229_15567+238del	XP_011539417.2:n.15567+229_15567+238del
XM_011541116.3:c.15558+229_15558+238del	XP_011539418.2:n.15558+229_15558+238del
XM_011541117.3:c.15507+229_15507+238del	XP_011539419.2:n.15507+229_15507+238del
XM_011541118.3:c.15504+229_15504+238del	XP_011539420.2:n.15504+229_15504+238del
XM_011541119.3:c.15471+229_15471+238del	XP_011539421.2:n.15471+229_15471+238del
XM_011541120.3:c.15468+229_15468+238del	XP_011539422.2:n.15468+229_15468+238del
XM_011541121.3:c.15435+229_15435+238del	XP_011539423.2:n.15435+229_15435+238del
XM_017000822.2:c.15570+229_15570+238del	XP_016856311.2:n.15570+229_15570+238del
XM_017000823.2:c.15543+229_15543+238del	XP_016856312.2:n.15543+229_15543+238del
XM_017000824.2:c.15489+229_15489+238del	XP_016856313.2:n.15489+229_15489+238del
XM_017000825.2:c.15474+229_15474+238del	XP_016856314.2:n.15474+229_15474+238del
XM_017000826.2:c.15471+229_15471+238del	XP_016856315.2:n.15471+229_15471+238del
XM_017000827.2:c.15456+229_15456+238del	XP_016856316.2:n.15456+229_15456+238del
XM_017000828.2:c.15432+229_15432+238del	XP_016856317.2:n.15432+229_15432+238del
XM_017000829.2:c.15384+229_15384+238del	XP_016856318.2:n.15384+229_15384+238del
XM_017000830.2:c.15333+229_15333+238del	XP_016856319.2:n.15333+229_15333+238del
NM_020765.3:c.15324+229_15324+238del MANE Select	NP_065816.2:n.15324+229_15324+238del