Canonical Allele Identifier: CA339158
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 216138
ClinVar RCV Id: RCV000200204 RCV000710060
dbSNP Id: rs863224530
MyVariant Identifiers: chr4:g.122780285_122780286del (hg19) chr4:g.121859130_121859131del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121859130_121859131del , CM000666.2:g.121859130_121859131del GRCh38
NC_000004.11:g.122780285_122780286del , CM000666.1:g.122780285_122780286del GRCh37
NC_000004.10:g.122999735_122999736del NCBI36
NG_009111.1:g.16357_16358del

Transcript Alleles

HGVS Amino-acid change
ENST00000264499.9:c.389_390del MANE Select ENSP00000264499.4:p.Asn130ThrfsTer4
ENST00000264499.8:c.389_390del ENSP00000264499.4:p.Asn130ThrfsTer4
ENST00000505692.1:n.224_225del
ENST00000506636.1:c.389_390del ENSP00000423626.1:p.Asn130ThrfsTer4
NM_018190.3:c.389_390del NP_060660.2:p.Asn130ThrfsTer4
NM_176824.2:c.389_390del NP_789794.1:p.Asn130ThrfsTer4
XM_005263106.2:c.389_390del XP_005263163.1:p.Asn130ThrfsTer4
XM_011532079.1:c.389_390del XP_011530381.1:p.Asn130ThrfsTer4
XM_011532080.1:c.389_390del XP_011530382.1:p.Asn130ThrfsTer4
XM_011532081.1:c.389_390del XP_011530383.1:p.Asn130ThrfsTer4
XM_005263106.4:c.389_390del XP_005263163.1:p.Asn130ThrfsTer4
XM_011532079.3:c.389_390del XP_011530381.1:p.Asn130ThrfsTer4
XM_011532080.3:c.389_390del XP_011530382.1:p.Asn130ThrfsTer4
XM_011532081.3:c.389_390del XP_011530383.1:p.Asn130ThrfsTer4
XM_017008357.2:c.389_390del XP_016863846.1:p.Asn130ThrfsTer4
XM_017008358.2:c.389_390del XP_016863847.1:p.Asn130ThrfsTer4
NM_176824.3:c.389_390del MANE Select NP_789794.1:p.Asn130ThrfsTer4
NM_018190.4:c.389_390del NP_060660.2:p.Asn130ThrfsTer4
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