Canonical Allele Identifier: CA647875

Gene: UBR4

Linked Data

• dbSNP Id: rs776197849
• ExAC: 1:19404256 AAAACC / A
• gnomAD v2: 1-19404256-AAAACC-A
• gnomAD v4: 1-19077762-AAAACC-A
• MyVariant Identifiers: chr1:g.19404257_19404261del (hg19) ; chr1:g.19077763_19077767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19077767_19077771del , CM000663.2:g.19077767_19077771del	GRCh38
NC_000001.10:g.19404261_19404265del , CM000663.1:g.19404261_19404265del	GRCh37
NC_000001.9:g.19276848_19276852del	NCBI36
NG_027669.1:g.137486_137490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15324+209_15324+213del MANE Select	ENSP00000364403.3:n.15324+209_15324+213del
ENST00000375224.1:c.2445+209_2445+213del	ENSP00000364372.1:n.2445+209_2445+213del
ENST00000375225.7:c.549+209_549+213del	ENSP00000364373.3:n.549+209_549+213del
ENST00000375254.7:c.15324+209_15324+213del	ENSP00000364403.3:n.15324+209_15324+213del
ENST00000459947.5:n.3331+209_3331+213del
ENST00000486515.1:n.43+18_43+22del
NM_020765.2:c.15324+209_15324+213del	NP_065816.2:n.15324+209_15324+213del
XM_011541108.1:c.15477+209_15477+213del	XP_011539410.1:n.15477+209_15477+213del
XM_011541109.1:c.15474+209_15474+213del	XP_011539411.1:n.15474+209_15474+213del
XM_011541110.1:c.15474+209_15474+213del	XP_011539412.1:n.15474+209_15474+213del
XM_011541111.1:c.15474+209_15474+213del	XP_011539413.1:n.15474+209_15474+213del
XM_011541112.1:c.15462+209_15462+213del	XP_011539414.1:n.15462+209_15462+213del
XM_011541113.1:c.15459+209_15459+213del	XP_011539415.1:n.15459+209_15459+213del
XM_011541114.1:c.15459+209_15459+213del	XP_011539416.1:n.15459+209_15459+213del
XM_011541115.1:c.15453+209_15453+213del	XP_011539417.1:n.15453+209_15453+213del
XM_011541116.1:c.15444+209_15444+213del	XP_011539418.1:n.15444+209_15444+213del
XM_011541117.1:c.15393+209_15393+213del	XP_011539419.1:n.15393+209_15393+213del
XM_011541118.1:c.15390+209_15390+213del	XP_011539420.1:n.15390+209_15390+213del
XM_011541119.1:c.15357+209_15357+213del	XP_011539421.1:n.15357+209_15357+213del
XM_011541120.1:c.15354+209_15354+213del	XP_011539422.1:n.15354+209_15354+213del
XM_011541121.1:c.15321+209_15321+213del	XP_011539423.1:n.15321+209_15321+213del
XM_011541108.3:c.15591+209_15591+213del	XP_011539410.2:n.15591+209_15591+213del
XM_011541109.3:c.15588+209_15588+213del	XP_011539411.2:n.15588+209_15588+213del
XM_011541110.3:c.15588+209_15588+213del	XP_011539412.2:n.15588+209_15588+213del
XM_011541111.3:c.15588+209_15588+213del	XP_011539413.2:n.15588+209_15588+213del
XM_011541112.3:c.15576+209_15576+213del	XP_011539414.2:n.15576+209_15576+213del
XM_011541113.3:c.15573+209_15573+213del	XP_011539415.2:n.15573+209_15573+213del
XM_011541114.3:c.15573+209_15573+213del	XP_011539416.2:n.15573+209_15573+213del
XM_011541115.3:c.15567+209_15567+213del	XP_011539417.2:n.15567+209_15567+213del
XM_011541116.3:c.15558+209_15558+213del	XP_011539418.2:n.15558+209_15558+213del
XM_011541117.3:c.15507+209_15507+213del	XP_011539419.2:n.15507+209_15507+213del
XM_011541118.3:c.15504+209_15504+213del	XP_011539420.2:n.15504+209_15504+213del
XM_011541119.3:c.15471+209_15471+213del	XP_011539421.2:n.15471+209_15471+213del
XM_011541120.3:c.15468+209_15468+213del	XP_011539422.2:n.15468+209_15468+213del
XM_011541121.3:c.15435+209_15435+213del	XP_011539423.2:n.15435+209_15435+213del
XM_017000822.2:c.15570+209_15570+213del	XP_016856311.2:n.15570+209_15570+213del
XM_017000823.2:c.15543+209_15543+213del	XP_016856312.2:n.15543+209_15543+213del
XM_017000824.2:c.15489+209_15489+213del	XP_016856313.2:n.15489+209_15489+213del
XM_017000825.2:c.15474+209_15474+213del	XP_016856314.2:n.15474+209_15474+213del
XM_017000826.2:c.15471+209_15471+213del	XP_016856315.2:n.15471+209_15471+213del
XM_017000827.2:c.15456+209_15456+213del	XP_016856316.2:n.15456+209_15456+213del
XM_017000828.2:c.15432+209_15432+213del	XP_016856317.2:n.15432+209_15432+213del
XM_017000829.2:c.15384+209_15384+213del	XP_016856318.2:n.15384+209_15384+213del
XM_017000830.2:c.15333+209_15333+213del	XP_016856319.2:n.15333+209_15333+213del
NM_020765.3:c.15324+209_15324+213del MANE Select	NP_065816.2:n.15324+209_15324+213del