Canonical Allele Identifier: CA786316409

Gene: BBS7

Linked Data

• dbSNP Id: rs1294364989
• gnomAD v3: 4-121854922-TAA-T
• gnomAD v4: 4-121854922-TAA-T
• MyVariant Identifiers: chr4:g.122776078_122776079del (hg19) ; chr4:g.121854923_121854924del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854926_121854927del , CM000666.2:g.121854926_121854927del	GRCh38
NC_000004.11:g.122776081_122776082del , CM000666.1:g.122776081_122776082del	GRCh37
NC_000004.10:g.122995531_122995532del	NCBI36
NG_009111.1:g.20564_20565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-104_602-103del MANE Select	ENSP00000264499.4:n.602-104_602-103del
ENST00000264499.8:c.602-104_602-103del	ENSP00000264499.4:n.602-104_602-103del
ENST00000506636.1:c.602-104_602-103del	ENSP00000423626.1:n.602-104_602-103del
NM_018190.3:c.602-104_602-103del	NP_060660.2:n.602-104_602-103del
NM_176824.2:c.602-104_602-103del	NP_789794.1:n.602-104_602-103del
XM_005263106.2:c.602-101_602-100del	XP_005263163.1:n.602-101_602-100del
XM_011532079.1:c.647-101_647-100del	XP_011530381.1:n.647-101_647-100del
XM_011532080.1:c.647-104_647-103del	XP_011530382.1:n.647-104_647-103del
XM_011532081.1:c.647-101_647-100del	XP_011530383.1:n.647-101_647-100del
XM_005263106.4:c.602-101_602-100del	XP_005263163.1:n.602-101_602-100del
XM_011532079.3:c.647-101_647-100del	XP_011530381.1:n.647-101_647-100del
XM_011532080.3:c.647-104_647-103del	XP_011530382.1:n.647-104_647-103del
XM_011532081.3:c.647-101_647-100del	XP_011530383.1:n.647-101_647-100del
XM_017008357.2:c.602-104_602-103del	XP_016863846.1:n.602-104_602-103del
XM_017008358.2:c.602-101_602-100del	XP_016863847.1:n.602-101_602-100del
NM_176824.3:c.602-104_602-103del MANE Select	NP_789794.1:n.602-104_602-103del
NM_018190.4:c.602-104_602-103del	NP_060660.2:n.602-104_602-103del