Canonical Allele Identifier: CA10581661

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828692_121828693delinsTCT , CM000666.2:g.121828692_121828693delinsTCT	GRCh38
NC_000004.11:g.122749847_122749848delinsTCT , CM000666.1:g.122749847_122749848delinsTCT	GRCh37
NC_000004.10:g.122969297_122969298delinsTCT	NCBI36
NG_009111.1:g.46795_46796delinsAGA
NG_052974.1:g.309_310delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1712_1713delinsAGA MANE Select	ENSP00000264499.4:p.Ser571Ter
ENST00000264499.8:c.1712_1713delinsAGA	ENSP00000264499.4:p.Ser571Ter
ENST00000506636.1:c.1712_1713delinsAGA	ENSP00000423626.1:p.Ser571Ter
NM_018190.3:c.1712_1713delinsAGA	NP_060660.2:p.Ser571Ter
NM_176824.2:c.1712_1713delinsAGA	NP_789794.1:p.Ser571Ter
XM_005263106.2:c.1715_1716delinsAGA	XP_005263163.1:p.Ser572Ter
XM_011532079.1:c.1760_1761delinsAGA	XP_011530381.1:p.Ser587Ter
XM_011532080.1:c.1757_1758delinsAGA	XP_011530382.1:p.Ser586Ter
XM_011532081.1:c.1595_1596delinsAGA	XP_011530383.1:p.Ser532Ter
XM_005263106.4:c.1715_1716delinsAGA	XP_005263163.1:p.Ser572Ter
XM_011532079.3:c.1760_1761delinsAGA	XP_011530381.1:p.Ser587Ter
XM_011532080.3:c.1757_1758delinsAGA	XP_011530382.1:p.Ser586Ter
XM_011532081.3:c.1595_1596delinsAGA	XP_011530383.1:p.Ser532Ter
XM_017008357.2:c.1547_1548delinsAGA	XP_016863846.1:p.Ser516Ter
XM_017008358.2:c.1550_1551delinsAGA	XP_016863847.1:p.Ser517Ter
NM_176824.3:c.1712_1713delinsAGA MANE Select	NP_789794.1:p.Ser571Ter
NM_018190.4:c.1712_1713delinsAGA	NP_060660.2:p.Ser571Ter