Canonical Allele Identifier: CA3064130

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828516T>G , CM000666.2:g.121828516T>G	GRCh38
NC_000004.11:g.122749671T>G , CM000666.1:g.122749671T>G	GRCh37
NC_000004.10:g.122969121T>G	NCBI36
NG_009111.1:g.46972A>C
NG_052974.1:g.486A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_176824.3:c.1787-11A>C MANE Select	NP_789794.1:n.1787-11A>C
ENST00000264499.9:c.1787-11A>C MANE Select	ENSP00000264499.4:n.1787-11A>C
NM_018190.3:c.1787-11A>C	NP_060660.2:n.1787-11A>C
NM_018190.4:c.1787-11A>C	NP_060660.2:n.1787-11A>C
NM_176824.2:c.1787-11A>C	NP_789794.1:n.1787-11A>C
ENST00000264499.8:c.1787-11A>C	ENSP00000264499.4:n.1787-11A>C
ENST00000506636.1:c.1787-11A>C	ENSP00000423626.1:n.1787-11A>C
ENST00000507814.5:c.56-11A>C	ENSP00000423250.1:n.56-11A>C
XM_005263106.2:c.1790-11A>C	XP_005263163.1:n.1790-11A>C
XM_005263106.4:c.1790-11A>C	XP_005263163.1:n.1790-11A>C
XM_011532079.1:c.1835-11A>C	XP_011530381.1:n.1835-11A>C
XM_011532079.3:c.1835-11A>C	XP_011530381.1:n.1835-11A>C
XM_011532080.1:c.1832-11A>C	XP_011530382.1:n.1832-11A>C
XM_011532080.3:c.1832-11A>C	XP_011530382.1:n.1832-11A>C
XM_011532081.1:c.1670-11A>C	XP_011530383.1:n.1670-11A>C
XM_011532081.3:c.1670-11A>C	XP_011530383.1:n.1670-11A>C
XM_017008357.2:c.1622-11A>C	XP_016863846.1:n.1622-11A>C
XM_017008358.2:c.1625-11A>C	XP_016863847.1:n.1625-11A>C