Canonical Allele Identifier: CA2792483200

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526884_66526885insCAG , CM000673.2:g.66526884_66526885insCAG	GRCh38
NC_000011.9:g.66294355_66294356insCAG , CM000673.1:g.66294355_66294356insCAG	GRCh37
NC_000011.8:g.66050931_66050932insCAG	NCBI36
NG_009093.1:g.21237_21238insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+77_1339+78insCAG (BBS1) MANE Select	ENSP00000317469.7:n.1339+77_1339+78insCAG
ENST00000318312.11:c.1339+77_1339+78insCAG (BBS1)	ENSP00000317469.7:n.1339+77_1339+78insCAG
ENST00000393994.4:c.952+77_952+78insCAG (BBS1)	ENSP00000377563.2:n.952+77_952+78insCAG
ENST00000419755.3:c.1450+77_1450+78insCAG	ENSP00000398526.3:n.1450+77_1450+78insCAG
ENST00000455748.6:c.1048+77_1048+78insCAG (BBS1)	ENSP00000405764.2:n.1048+77_1048+78insCAG
ENST00000526760.5:c.*1046+77_*1046+78insCAG (BBS1)	ENSP00000432140.1:n.*1046+77_*1046+78insCAG
ENST00000526986.5:c.*21+51_*21+52insCTG (ZDHHC24)	ENSP00000431321.1:n.*21+51_*21+52insCTG
ENST00000527959.1:n.560_561insCAG (BBS1)
ENST00000529766.5:n.1423_1424insCAG (BBS1)
ENST00000529955.5:n.1310+77_1310+78insCAG (BBS1)
ENST00000534073.5:c.*21+51_*21+52insCTG (ZDHHC24)	ENSP00000436503.1:n.*21+51_*21+52insCTG
ENST00000630659.2:c.*1046+77_*1046+78insCAG (BBS1)	ENSP00000486455.1:n.*1046+77_*1046+78insCAG
NM_024649.4:c.1339+77_1339+78insCAG (BBS1)	NP_078925.3:n.1339+77_1339+78insCAG
XM_005273874.3:c.*21+51_*21+52insCTG (ZDHHC24)	XP_005273931.1:n.*21+51_*21+52insCTG
XM_011544894.1:c.*21+51_*21+52insCTG (ZDHHC24)	XP_011543196.1:n.*21+51_*21+52insCTG
XM_011544895.1:c.560-2609_560-2608insCTG (ZDHHC24)	XP_011543197.1:n.560-2609_560-2608insCTG
XR_949860.1:n.686+51_686+52insCTG (ZDHHC24)
NM_001348571.1:c.*21+51_*21+52insCTG (ZDHHC24)	NP_001335500.1:n.*21+51_*21+52insCTG
XM_005273874.4:c.*21+51_*21+52insCTG (ZDHHC24)	XP_005273931.1:n.*21+51_*21+52insCTG
XM_011544894.2:c.*21+51_*21+52insCTG (ZDHHC24)	XP_011543196.1:n.*21+51_*21+52insCTG
XR_001747823.2:n.741-2609_741-2608insCTG (ZDHHC24)
XR_949860.3:n.811+51_811+52insCTG (ZDHHC24)
NM_024649.5:c.1339+77_1339+78insCAG (BBS1) MANE Select	NP_078925.3:n.1339+77_1339+78insCAG
NM_001348571.2:c.*21+51_*21+52insCTG (ZDHHC24)	NP_001335500.1:n.*21+51_*21+52insCTG