Canonical Allele Identifier: CA2014394399

Gene: C1R C1RL

Linked Data

• dbSNP Id: rs1938271329

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7091453_7091457del , CM000674.2:g.7091453_7091457del	GRCh38
NC_000012.11:g.7244049_7244053del , CM000674.1:g.7244049_7244053del	GRCh37
NC_000012.10:g.7135190_7135194del	NCBI36
NG_062465.1:g.6152_6156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.227_231del (C1R) MANE Select	ENSP00000497341.1:p.Val76AspfsTer4
ENST00000535233.6:c.227_231del (C1R)	ENSP00000438636.3:p.Val76AspfsTer?
ENST00000536053.6:c.269_273del (C1R)	ENSP00000444271.3:p.Val90AspfsTer4
ENST00000536092.1:n.332_336del (C1R)
ENST00000538050.5:c.-89_-85del (C1R)	ENSP00000444009.1:n.-89_-85del
ENST00000539803.5:c.694_698del (C1RL)
ENST00000540242.2:c.227_231del (C1R)	ENSP00000442946.1:p.Val76AspfsTer4
ENST00000540394.5:n.986_990del (C1R)
ENST00000540610.5:c.-85+931_-85+935del (C1R)	ENSP00000439223.1:n.-85+931_-85+935del
ENST00000541042.5:c.-89_-85del (C1R)	ENSP00000441601.1:n.-89_-85del
ENST00000542285.5:c.227_231del (C1R)	ENSP00000438615.2:p.Val76AspfsTer4
ENST00000543362.5:c.227_231del (C1R)	ENSP00000446356.1:p.Val76AspfsTer4
ENST00000543835.5:c.227_231del (C1R)	ENSP00000445285.1:p.Val76GlufsTer?
ENST00000545466.1:n.280_284del (C1R)
NM_001733.4:c.227_231del (C1R)	NP_001724.3:p.Val76AspfsTer4
NM_001354346.1:c.269_273del (C1R)	NP_001341275.1:p.Val90AspfsTer4
NM_001733.6:c.227_231del (C1R)	NP_001724.4:p.Val76AspfsTer4
NM_001733.7:c.227_231del (C1R) MANE Select	NP_001724.4:p.Val76AspfsTer4
NM_001354346.2:c.269_273del (C1R)	NP_001341275.1:p.Val90AspfsTer4