Canonical Allele Identifier: CA104762548

Gene: BBS7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121845655_121845656del , CM000666.2:g.121845655_121845656del	GRCh38
NC_000004.11:g.122766810_122766811del , CM000666.1:g.122766810_122766811del	GRCh37
NC_000004.10:g.122986260_122986261del	NCBI36
NG_009111.1:g.29837_29838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1083_1084del MANE Select	ENSP00000264499.4:p.Asn362LeufsTer21
ENST00000264499.8:c.1083_1084del	ENSP00000264499.4:p.Asn362LeufsTer21
ENST00000506636.1:c.1083_1084del	ENSP00000423626.1:p.Asn362LeufsTer21
NM_018190.3:c.1083_1084del	NP_060660.2:p.Asn362LeufsTer21
NM_176824.2:c.1083_1084del	NP_789794.1:p.Asn362LeufsTer21
XM_005263106.2:c.1086_1087del	XP_005263163.1:p.Asn363LeufsTer21
XM_011532079.1:c.1131_1132del	XP_011530381.1:p.Asn378LeufsTer21
XM_011532080.1:c.1128_1129del	XP_011530382.1:p.Asn377LeufsTer21
XM_011532081.1:c.1131_1132del	XP_011530383.1:p.Asn378LeufsTer21
XM_005263106.4:c.1086_1087del	XP_005263163.1:p.Asn363LeufsTer21
XM_011532079.3:c.1131_1132del	XP_011530381.1:p.Asn378LeufsTer21
XM_011532080.3:c.1128_1129del	XP_011530382.1:p.Asn377LeufsTer21
XM_011532081.3:c.1131_1132del	XP_011530383.1:p.Asn378LeufsTer21
XM_017008357.2:c.1083_1084del	XP_016863846.1:p.Asn362LeufsTer21
XM_017008358.2:c.1086_1087del	XP_016863847.1:p.Asn363LeufsTer21
NM_176824.3:c.1083_1084del MANE Select	NP_789794.1:p.Asn362LeufsTer21
NM_018190.4:c.1083_1084del	NP_060660.2:p.Asn362LeufsTer21