Canonical Allele Identifier: CA5529713

Gene: KIFBP

Linked Data

• dbSNP Id: rs757514844
• ExAC: 10:70764809 GTCC / G
• gnomAD v2: 10-70764809-GTCC-G
• gnomAD v3: 10-69005053-GTCC-G
• gnomAD v4: 10-69005053-GTCC-G
• MyVariant Identifiers: chr10:g.70764810_70764812del (hg19) ; chr10:g.69005054_69005056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69005059_69005061del , CM000672.2:g.69005059_69005061del	GRCh38
NC_000010.10:g.70764815_70764817del , CM000672.1:g.70764815_70764817del	GRCh37
NC_000010.9:g.70434821_70434823del	NCBI36
NG_017061.1:g.21339_21341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361983.7:c.539_541del MANE Select	ENSP00000354848.4:p.Pro180del
ENST00000625461.2:n.569_571del
ENST00000626493.2:c.539_541del	ENSP00000486692.1:p.Pro180del
ENST00000635779.2:c.539_541del	ENSP00000489663.1:p.Pro180del
ENST00000635971.2:c.539_541del	ENSP00000489878.2:p.Pro180del
ENST00000636200.2:c.539_541del	ENSP00000490113.2:p.Pro180del
ENST00000637101.2:c.*112_*114del	ENSP00000490704.1:n.*112_*114del
ENST00000637104.2:c.*108_*110del	ENSP00000490019.2:n.*108_*110del
ENST00000637323.2:c.*180_*182del	ENSP00000489659.2:n.*180_*182del
ENST00000637420.2:c.539_541del	ENSP00000490404.2:p.Pro180del
ENST00000637738.2:c.539_541del	ENSP00000490742.2:p.Pro180del
ENST00000638119.2:c.614_616del	ENSP00000490026.1:p.Pro205del
ENST00000674660.1:c.526-38_526-36del	ENSP00000502562.1:n.526-38_526-36del
ENST00000674688.1:n.569_571del
ENST00000674897.1:c.23_25del	ENSP00000502225.1:p.Pro8del
ENST00000674936.1:c.539_541del	ENSP00000502484.1:p.Pro180del
ENST00000675576.1:c.440_442del	ENSP00000502750.1:p.Pro147del
ENST00000676080.1:c.*52_*54del	ENSP00000502706.1:n.*52_*54del
ENST00000361983.6:c.539_541del	ENSP00000354848.4:p.Pro180del
ENST00000625461.1:n.255_257del
ENST00000626493.1:c.539_541del	ENSP00000486692.1:p.Pro180del
NM_015634.3:c.539_541del	NP_056449.1:p.Pro180del
NM_015634.4:c.539_541del MANE Select	NP_056449.1:p.Pro180del