Canonical Allele Identifier: CA1979717859

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531603_66531604delinsGC , CM000673.2:g.66531603_66531604delinsGC	GRCh38
NC_000011.9:g.66299074_66299075delinsGC , CM000673.1:g.66299074_66299075delinsGC	GRCh37
NC_000011.8:g.66055650_66055651delinsGC	NCBI36
NG_009093.1:g.25956_25957delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1609-53_1609-52delinsGC (BBS1) MANE Select	ENSP00000317469.7:n.1609-53_1609-52delins...
ENST00000318312.11:c.1609-53_1609-52delinsGC (BBS1)	ENSP00000317469.7:n.1609-53_1609-52delins...
ENST00000393994.4:c.1222-53_1222-52delinsGC (BBS1)	ENSP00000377563.2:n.1222-53_1222-52delins...
ENST00000419755.3:c.1720-53_1720-52delinsGC	ENSP00000398526.3:n.1720-53_1720-52delins...
ENST00000455748.6:c.1318-53_1318-52delinsGC (BBS1)	ENSP00000405764.2:n.1318-53_1318-52delins...
ENST00000526760.5:c.*1316-53_*1316-52delinsGC (BBS1)	ENSP00000432140.1:n.*1316-53_*1316-52deli...
ENST00000526986.5:c.560-2116_560-2115delinsGC (ZDHHC24)	ENSP00000431321.1:n.560-2116_560-2115deli...
ENST00000529955.5:n.1580-53_1580-52delinsGC (BBS1)
ENST00000534073.5:c.560-4598_560-4597delinsGC (ZDHHC24)	ENSP00000436503.1:n.560-4598_560-4597deli...
ENST00000630659.2:c.*1316-53_*1316-52delinsGC (BBS1)	ENSP00000486455.1:n.*1316-53_*1316-52deli...
NM_024649.4:c.1609-53_1609-52delinsGC (BBS1)	NP_078925.3:n.1609-53_1609-52delinsGC
XM_005273874.3:c.560-4598_560-4597delinsGC (ZDHHC24)	XP_005273931.1:n.560-4598_560-4597delinsG...
XM_011544891.1:c.560-2116_560-2115delinsGC (ZDHHC24)	XP_011543193.1:n.560-2116_560-2115delinsG...
XM_011544894.1:c.560-4598_560-4597delinsGC (ZDHHC24)	XP_011543196.1:n.560-4598_560-4597delinsG...
XM_011544895.1:c.560-7328_560-7327delinsGC (ZDHHC24)	XP_011543197.1:n.560-7328_560-7327delinsG...
XR_949860.1:n.616-4598_616-4597delinsGC (ZDHHC24)
NM_001348571.1:c.560-2116_560-2115delinsGC (ZDHHC24)	NP_001335500.1:n.560-2116_560-2115delinsG...
XM_005273874.4:c.560-4598_560-4597delinsGC (ZDHHC24)	XP_005273931.1:n.560-4598_560-4597delinsG...
XM_011544894.2:c.560-4598_560-4597delinsGC (ZDHHC24)	XP_011543196.1:n.560-4598_560-4597delinsG...
XR_001747823.2:n.741-7328_741-7327delinsGC (ZDHHC24)
XR_949860.3:n.741-4598_741-4597delinsGC (ZDHHC24)
NM_024649.5:c.1609-53_1609-52delinsGC (BBS1) MANE Select	NP_078925.3:n.1609-53_1609-52delinsGC
NM_001348571.2:c.560-2116_560-2115delinsGC (ZDHHC24)	NP_001335500.1:n.560-2116_560-2115delinsG...