Canonical Allele Identifier: CA2619945592

Gene: BBS10

Linked Data

• gnomAD v4: 12-76346980-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346980_76346981insTA , CM000674.2:g.76346980_76346981insTA	GRCh38
NC_000012.11:g.76740760_76740761insTA , CM000674.1:g.76740760_76740761insTA	GRCh37
NC_000012.10:g.75264891_75264892insTA	NCBI36
NG_016357.1:g.6462_6463insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1004_1005insTA MANE Select	ENSP00000497413.1:p.Ser336AsnfsTer?
ENST00000393262.3:c.1004_1005insTA	ENSP00000376946.3:p.Ser336AsnfsTer?
NM_024685.3:c.1004_1005insTA	NP_078961.3:p.Ser336AsnfsTer?
NM_024685.4:c.1004_1005insTA MANE Select	NP_078961.3:p.Ser336AsnfsTer?