Canonical Allele Identifier: CA786316357

Gene: BBS7

Linked Data

• dbSNP Id: rs1433968001
• gnomAD v3: 4-121854847-ATATTT-A
• gnomAD v4: 4-121854847-ATATTT-A
• MyVariant Identifiers: chr4:g.122776003_122776007del (hg19) ; chr4:g.121854848_121854852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854848_121854852del , CM000666.2:g.121854848_121854852del	GRCh38
NC_000004.11:g.122776003_122776007del , CM000666.1:g.122776003_122776007del	GRCh37
NC_000004.10:g.122995453_122995457del	NCBI36
NG_009111.1:g.20636_20640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-32_602-28del MANE Select	ENSP00000264499.4:n.602-32_602-28del
ENST00000264499.8:c.602-32_602-28del	ENSP00000264499.4:n.602-32_602-28del
ENST00000506636.1:c.602-32_602-28del	ENSP00000423626.1:n.602-32_602-28del
NM_018190.3:c.602-32_602-28del	NP_060660.2:n.602-32_602-28del
NM_176824.2:c.602-32_602-28del	NP_789794.1:n.602-32_602-28del
XM_005263106.2:c.602-29_602-25del	XP_005263163.1:n.602-29_602-25del
XM_011532079.1:c.647-29_647-25del	XP_011530381.1:n.647-29_647-25del
XM_011532080.1:c.647-32_647-28del	XP_011530382.1:n.647-32_647-28del
XM_011532081.1:c.647-29_647-25del	XP_011530383.1:n.647-29_647-25del
XM_005263106.4:c.602-29_602-25del	XP_005263163.1:n.602-29_602-25del
XM_011532079.3:c.647-29_647-25del	XP_011530381.1:n.647-29_647-25del
XM_011532080.3:c.647-32_647-28del	XP_011530382.1:n.647-32_647-28del
XM_011532081.3:c.647-29_647-25del	XP_011530383.1:n.647-29_647-25del
XM_017008357.2:c.602-32_602-28del	XP_016863846.1:n.602-32_602-28del
XM_017008358.2:c.602-29_602-25del	XP_016863847.1:n.602-29_602-25del
NM_176824.3:c.602-32_602-28del MANE Select	NP_789794.1:n.602-32_602-28del
NM_018190.4:c.602-32_602-28del	NP_060660.2:n.602-32_602-28del