Canonical Allele Identifier: CA2614499041

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515585-CGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515588_66515693del , CM000673.2:g.66515588_66515693del	GRCh38
NC_000011.9:g.66283059_66283164del , CM000673.1:g.66283059_66283164del	GRCh37
NC_000011.8:g.66039635_66039740del	NCBI36
NG_009093.1:g.9941_10046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.479+2_480del
ENST00000318312.11:c.479+2_480del
ENST00000393994.4:c.479+2_480del
ENST00000419755.3:c.590+2_591del
ENST00000455748.6:c.432+910_432+1015del	ENSP00000405764.2:n.432+910_432+1015del
ENST00000524458.5:c.*140-105_*140del
ENST00000524907.5:n.471_576del
ENST00000525809.5:c.206+2_207del
ENST00000526035.5:c.*186+2_*187del
ENST00000526760.5:c.*186+2_*187del
ENST00000527251.5:c.*186+2_*187del
ENST00000529766.5:n.486+2_487del
ENST00000529953.5:n.131+2_132del
ENST00000529955.5:n.451-105_451del
ENST00000532908.5:c.*140-105_*140del
ENST00000533430.5:n.257+2_258del
ENST00000533557.5:c.*140-105_*140del
ENST00000533644.5:c.433-105_433del
ENST00000534730.5:n.491+2_492del
ENST00000630659.2:c.*186+2_*187del
NM_024649.4:c.479+2_480del
NM_024649.5:c.479+2_480del