Canonical Allele Identifier: CA938985161

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs1856783168
• gnomAD v3: 11-66531607-AAC-A
• gnomAD v4: 11-66531607-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531610_66531611del , CM000673.2:g.66531610_66531611del	GRCh38
NC_000011.9:g.66299081_66299082del , CM000673.1:g.66299081_66299082del	GRCh37
NC_000011.8:g.66055657_66055658del	NCBI36
NG_009093.1:g.25963_25964del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1609-46_1609-45del (BBS1) MANE Select	ENSP00000317469.7:n.1609-46_1609-45del
ENST00000318312.11:c.1609-46_1609-45del (BBS1)	ENSP00000317469.7:n.1609-46_1609-45del
ENST00000393994.4:c.1222-46_1222-45del (BBS1)	ENSP00000377563.2:n.1222-46_1222-45del
ENST00000419755.3:c.1720-46_1720-45del	ENSP00000398526.3:n.1720-46_1720-45del
ENST00000455748.6:c.1318-46_1318-45del (BBS1)	ENSP00000405764.2:n.1318-46_1318-45del
ENST00000526760.5:c.*1316-46_*1316-45del (BBS1)	ENSP00000432140.1:n.*1316-46_*1316-45del
ENST00000526986.5:c.560-2121_560-2120del (ZDHHC24)	ENSP00000431321.1:n.560-2121_560-2120del
ENST00000529955.5:n.1580-46_1580-45del (BBS1)
ENST00000534073.5:c.560-4603_560-4602del (ZDHHC24)	ENSP00000436503.1:n.560-4603_560-4602del
ENST00000630659.2:c.*1316-46_*1316-45del (BBS1)	ENSP00000486455.1:n.*1316-46_*1316-45del
NM_024649.4:c.1609-46_1609-45del (BBS1)	NP_078925.3:n.1609-46_1609-45del
XM_005273874.3:c.560-4603_560-4602del (ZDHHC24)	XP_005273931.1:n.560-4603_560-4602del
XM_011544891.1:c.560-2121_560-2120del (ZDHHC24)	XP_011543193.1:n.560-2121_560-2120del
XM_011544894.1:c.560-4603_560-4602del (ZDHHC24)	XP_011543196.1:n.560-4603_560-4602del
XM_011544895.1:c.560-7333_560-7332del (ZDHHC24)	XP_011543197.1:n.560-7333_560-7332del
XR_949860.1:n.616-4603_616-4602del (ZDHHC24)
NM_001348571.1:c.560-2121_560-2120del (ZDHHC24)	NP_001335500.1:n.560-2121_560-2120del
XM_005273874.4:c.560-4603_560-4602del (ZDHHC24)	XP_005273931.1:n.560-4603_560-4602del
XM_011544894.2:c.560-4603_560-4602del (ZDHHC24)	XP_011543196.1:n.560-4603_560-4602del
XR_001747823.2:n.741-7333_741-7332del (ZDHHC24)
XR_949860.3:n.741-4603_741-4602del (ZDHHC24)
NM_024649.5:c.1609-46_1609-45del (BBS1) MANE Select	NP_078925.3:n.1609-46_1609-45del
NM_001348571.2:c.560-2121_560-2120del (ZDHHC24)	NP_001335500.1:n.560-2121_560-2120del