Canonical Allele Identifier: CA2518472747

Gene: BBS10

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76345810_76345811insGGAAAA , CM000674.2:g.76345810_76345811insGGAAAA	GRCh38
NC_000012.11:g.76739590_76739591insGGAAAA , CM000674.1:g.76739590_76739591insGGAAAA	GRCh37
NC_000012.10:g.75263721_75263722insGGAAAA	NCBI36
NG_016357.1:g.7633_7634insTTTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.*3_*4insTTTCCT MANE Select	ENSP00000497413.1:n.*3_*4insTTTCCT
ENST00000393262.3:c.*3_*4insTTTCCT	ENSP00000376946.3:n.*3_*4insTTTCCT
NM_024685.3:c.*3_*4insTTTCCT	NP_078961.3:n.*3_*4insTTTCCT
NM_024685.4:c.*3_*4insTTTCCT MANE Select	NP_078961.3:n.*3_*4insTTTCCT