Canonical Allele Identifier: CA1979711788

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526695_66526699delinsAGAGG , CM000673.2:g.66526695_66526699delinsAGAGG	GRCh38
NC_000011.9:g.66294166_66294170delinsAGAGG , CM000673.1:g.66294166_66294170delinsAGAGG	GRCh37
NC_000011.8:g.66050742_66050746delinsAGAGG	NCBI36
NG_009093.1:g.21048_21052delinsAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1227_1231delinsAGAGG (BBS1) MANE Select	ENSP00000317469.7:p.Val409=
ENST00000318312.11:c.1227_1231delinsAGAGG (BBS1)	ENSP00000317469.7:p.Val409=
ENST00000393994.4:c.840_844delinsAGAGG (BBS1)	ENSP00000377563.2:p.Val280=
ENST00000419755.3:c.1338_1342delinsAGAGG	ENSP00000398526.3:p.Val446=
ENST00000455748.6:c.936_940delinsAGAGG (BBS1)	ENSP00000405764.2:p.Val312=
ENST00000526760.5:c.*934_*938delinsAGAGG (BBS1)	ENSP00000432140.1:n.*934_*938delinsAGAGG
ENST00000526986.5:c.*21+237_*21+241delinsCCTCT (ZDHHC24)	ENSP00000431321.1:n.*21+237_*21+241delinsCCTCT
ENST00000527959.1:n.371_375delinsAGAGG (BBS1)
ENST00000529766.5:n.1234_1238delinsAGAGG (BBS1)
ENST00000529955.5:n.1198_1202delinsAGAGG (BBS1)
ENST00000534073.5:c.*21+237_*21+241delinsCCTCT (ZDHHC24)	ENSP00000436503.1:n.*21+237_*21+241delinsCCTCT
ENST00000630659.2:c.*934_*938delinsAGAGG (BBS1)	ENSP00000486455.1:n.*934_*938delinsAGAGG
NM_024649.4:c.1227_1231delinsAGAGG (BBS1)	NP_078925.3:p.Val409=
XM_005273874.3:c.*21+237_*21+241delinsCCTCT (ZDHHC24)	XP_005273931.1:n.*21+237_*21+241delinsCCTCT
XM_011544894.1:c.*21+237_*21+241delinsCCTCT (ZDHHC24)	XP_011543196.1:n.*21+237_*21+241delinsCCTCT
XM_011544895.1:c.560-2423_560-2419delinsCCTCT (ZDHHC24)	XP_011543197.1:n.560-2423_560-2419delinsCCTCT
XR_949860.1:n.686+237_686+241delinsCCTCT (ZDHHC24)
NM_001348571.1:c.*21+237_*21+241delinsCCTCT (ZDHHC24)	NP_001335500.1:n.*21+237_*21+241delinsCCTCT
XM_005273874.4:c.*21+237_*21+241delinsCCTCT (ZDHHC24)	XP_005273931.1:n.*21+237_*21+241delinsCCTCT
XM_011544894.2:c.*21+237_*21+241delinsCCTCT (ZDHHC24)	XP_011543196.1:n.*21+237_*21+241delinsCCTCT
XR_001747823.2:n.741-2423_741-2419delinsCCTCT (ZDHHC24)
XR_949860.3:n.811+237_811+241delinsCCTCT (ZDHHC24)
NM_024649.5:c.1227_1231delinsAGAGG (BBS1) MANE Select	NP_078925.3:p.Val409=
NM_001348571.2:c.*21+237_*21+241delinsCCTCT (ZDHHC24)	NP_001335500.1:n.*21+237_*21+241delinsCCTCT