Canonical Allele Identifier: CA2792482765

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523608_66523609insCCCAAACACA , CM000673.2:g.66523608_66523609insCCCAAACACA	GRCh38
NC_000011.9:g.66291079_66291080insCCCAAACACA , CM000673.1:g.66291079_66291080insCCCAAACACA	GRCh37
NC_000011.8:g.66047655_66047656insCCCAAACACA	NCBI36
NG_009093.1:g.17961_17962insCCCAAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.951+32_951+33insCCCAAACACA (BBS1) MANE Select	ENSP00000317469.7:n.951+32_951+33insCCCAAACACA
ENST00000318312.11:c.951+32_951+33insCCCAAACACA (BBS1)	ENSP00000317469.7:n.951+32_951+33insCCCAAACACA
ENST00000393994.4:c.724-2515_724-2514insCCCAAACACA (BBS1)	ENSP00000377563.2:n.724-2515_724-2514insCCCAAACACA
ENST00000419755.3:c.1062+32_1062+33insCCCAAACACA	ENSP00000398526.3:n.1062+32_1062+33insCCCAAACACA
ENST00000455748.6:c.660+32_660+33insCCCAAACACA (BBS1)	ENSP00000405764.2:n.660+32_660+33insCCCAAACACA
ENST00000526760.5:c.*658+32_*658+33insCCCAAACACA (BBS1)	ENSP00000432140.1:n.*658+32_*658+33insCCCAAACACA
ENST00000526986.5:c.*22-2143_*22-2142insTGTGTTTGGG (ZDHHC24)	ENSP00000431321.1:n.*22-2143_*22-2142insTGTGTTTGGG
ENST00000527959.1:n.95+32_95+33insCCCAAACACA (BBS1)
ENST00000529766.5:n.958+32_958+33insCCCAAACACA (BBS1)
ENST00000529895.1:n.400+32_400+33insCCCAAACACA (BBS1)
ENST00000529955.5:n.922+32_922+33insCCCAAACACA (BBS1)
ENST00000532908.5:c.*611+32_*611+33insCCCAAACACA (BBS1)	ENSP00000431866.1:n.*611+32_*611+33insCCCAAACACA
ENST00000534073.5:c.*143+546_*143+547insTGTGTTTGGG (ZDHHC24)	ENSP00000436503.1:n.*143+546_*143+547insTGTGTTTGGG
ENST00000630659.2:c.*658+32_*658+33insCCCAAACACA (BBS1)	ENSP00000486455.1:n.*658+32_*658+33insCCCAAACACA
NM_024649.4:c.951+32_951+33insCCCAAACACA (BBS1)	NP_078925.3:n.951+32_951+33insCCCAAACACA
XM_005273874.3:c.*22-2143_*22-2142insTGTGTTTGGG (ZDHHC24)	XP_005273931.1:n.*22-2143_*22-2142insTGTGTTTGGG
XR_949860.1:n.808+546_808+547insTGTGTTTGGG (ZDHHC24)
NM_001348571.1:c.*22-2143_*22-2142insTGTGTTTGGG (ZDHHC24)	NP_001335500.1:n.*22-2143_*22-2142insTGTGTTTGGG
XM_005273874.4:c.*22-2143_*22-2142insTGTGTTTGGG (ZDHHC24)	XP_005273931.1:n.*22-2143_*22-2142insTGTGTTTGGG
XR_001747823.2:n.862+546_862+547insTGTGTTTGGG (ZDHHC24)
XR_949860.3:n.933+546_933+547insTGTGTTTGGG (ZDHHC24)
NM_024649.5:c.951+32_951+33insCCCAAACACA (BBS1) MANE Select	NP_078925.3:n.951+32_951+33insCCCAAACACA
NM_001348571.2:c.*22-2143_*22-2142insTGTGTTTGGG (ZDHHC24)	NP_001335500.1:n.*22-2143_*22-2142insTGTGTTTGGG