Canonical Allele Identifier: CA6123202

Gene: BBS1

Linked Data

• dbSNP Id: rs762262925
• ExAC: 11:66278211 ACC / A
• gnomAD v2: 11-66278211-ACC-A
• gnomAD v4: 11-66510740-ACC-A
• MyVariant Identifiers: chr11:g.66278212_66278213del (hg19) ; chr11:g.66510741_66510742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510742_66510743del , CM000673.2:g.66510742_66510743del	GRCh38
NC_000011.9:g.66278213_66278214del , CM000673.1:g.66278213_66278214del	GRCh37
NC_000011.8:g.66034789_66034790del	NCBI36
NG_009093.1:g.5095_5096del
NG_032068.1:g.35334_35335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.47+36_47+37del MANE Select	ENSP00000317469.7:n.47+36_47+37del
ENST00000318312.11:c.47+36_47+37del	ENSP00000317469.7:n.47+36_47+37del
ENST00000393994.4:c.47+36_47+37del	ENSP00000377563.2:n.47+36_47+37del
ENST00000419755.3:c.159-271_159-270del	ENSP00000398526.3:n.159-271_159-270del
ENST00000455748.6:c.47+36_47+37del	ENSP00000405764.2:n.47+36_47+37del
ENST00000524907.5:n.37+36_37+37del
ENST00000525809.5:c.47+36_47+37del	ENSP00000431187.1:n.47+36_47+37del
ENST00000526035.5:c.47+36_47+37del	ENSP00000434197.1:n.47+36_47+37del
ENST00000526760.5:c.47+36_47+37del	ENSP00000432140.1:n.47+36_47+37del
ENST00000526815.5:c.-314_-313del	ENSP00000436860.1:n.-314_-313del
ENST00000527251.5:c.-314_-313del	ENSP00000434360.1:n.-314_-313del
ENST00000529766.5:n.54+36_54+37del
ENST00000529955.5:n.65+36_65+37del
ENST00000532908.5:c.47+36_47+37del	ENSP00000431866.1:n.47+36_47+37del
ENST00000533557.5:c.47+36_47+37del	ENSP00000434619.1:n.47+36_47+37del
ENST00000533644.5:c.47+36_47+37del	ENSP00000436073.1:n.47+36_47+37del
ENST00000534730.5:n.59+36_59+37del
ENST00000630659.2:c.47+36_47+37del	ENSP00000486455.1:n.47+36_47+37del
NM_024649.4:c.47+36_47+37del	NP_078925.3:n.47+36_47+37del
NM_024649.5:c.47+36_47+37del MANE Select	NP_078925.3:n.47+36_47+37del