Canonical Allele Identifier: CA2644011875

Gene: C1QB

Linked Data

• gnomAD v4: 1-22661086-GCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22661088_22661090del , CM000663.2:g.22661088_22661090del	GRCh38
NC_000001.10:g.22987581_22987583del , CM000663.1:g.22987581_22987583del	GRCh37
NC_000001.9:g.22860168_22860170del	NCBI36
NG_007283.1:g.12900_12902del , LRG_23:g.12900_12902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695754.1:c.458_460del	ENSP00000512147.1:p.Pro153del
ENST00000695755.1:c.458_460del	ENSP00000512148.1:p.Pro153del
ENST00000695756.1:c.458_460del	ENSP00000512149.1:p.Pro153del
ENST00000695757.1:c.458_460del	ENSP00000512150.1:p.Pro153del
ENST00000695758.1:c.*28_*30del	ENSP00000512151.1:n.*28_*30del
ENST00000695759.1:c.*28_*30del	ENSP00000512152.1:n.*28_*30del
ENST00000695760.1:c.536_538del	ENSP00000512153.1:p.Pro179del
ENST00000695761.1:c.*28_*30del	ENSP00000512154.1:n.*28_*30del
ENST00000695762.1:c.449_451del	ENSP00000512155.1:p.Pro150del
ENST00000695763.1:c.*627_*629del	ENSP00000512156.1:n.*627_*629del
ENST00000509305.6:c.458_460del MANE Select	ENSP00000423689.1:p.Pro153del
ENST00000314933.6:c.464_466del	ENSP00000313967.6:p.Pro155del
ENST00000432749.6:c.458_460del	ENSP00000404606.2:p.Pro153del
ENST00000509305.5:c.458_460del	ENSP00000423689.1:p.Pro153del
ENST00000510260.5:c.458_460del	ENSP00000426317.1:p.Pro153del
NM_000491.3:c.464_466del , LRG_23t1:c.464_466del	NP_000482.3:p.Pro155del
XM_011542059.1:c.464_466del	XP_011540361.1:p.Pro155del
NM_000491.4:c.464_466del	NP_000482.3:p.Pro155del
XM_011542059.2:c.464_466del	XP_011540361.1:p.Pro155del
NM_000491.5:c.464_466del	NP_000482.3:p.Pro155del
NM_001371184.1:c.464_466del	NP_001358113.1:p.Pro155del
NM_001371184.3:c.458_460del	NP_001358113.2:p.Pro153del
NM_001378156.1:c.458_460del MANE Select	NP_001365085.1:p.Pro153del