Canonical Allele Identifier: CA6424320

Gene: C1R C1RL

Linked Data

• dbSNP Id: rs778842370
• ExAC: 12:7244125 TGG / T
• gnomAD v2: 12-7244125-TGG-T
• gnomAD v3: 12-7091529-TGG-T
• gnomAD v4: 12-7091529-TGG-T
• MyVariant Identifiers: chr12:g.7244126_7244127del (hg19) ; chr12:g.7091531_7091532del (hg38) ; chr12:g.7091530_7091531del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7091532_7091533del , CM000674.2:g.7091532_7091533del	GRCh38
NC_000012.11:g.7244128_7244129del , CM000674.1:g.7244128_7244129del	GRCh37
NC_000012.10:g.7135269_7135270del	NCBI36
NG_062465.1:g.6077_6078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.152_153del (C1R) MANE Select	ENSP00000497341.1:p.Pro51HisfsTer13
ENST00000535233.6:c.152_153del (C1R)	ENSP00000438636.3:p.Pro51HisfsTer13
ENST00000536053.6:c.194_195del (C1R)	ENSP00000444271.3:p.Pro65HisfsTer13
ENST00000536092.1:n.257_258del (C1R)
ENST00000538050.5:c.-164_-163del (C1R)	ENSP00000444009.1:n.-164_-163del
ENST00000539803.5:c.619_620del (C1RL)
ENST00000540242.2:c.152_153del (C1R)	ENSP00000442946.1:p.Pro51HisfsTer13
ENST00000540394.5:n.911_912del (C1R)
ENST00000540610.5:c.-85+856_-85+857del (C1R)	ENSP00000439223.1:n.-85+856_-85+857del
ENST00000541042.5:c.-164_-163del (C1R)	ENSP00000441601.1:n.-164_-163del
ENST00000542285.5:c.152_153del (C1R)	ENSP00000438615.2:p.Pro51HisfsTer13
ENST00000543362.5:c.152_153del (C1R)	ENSP00000446356.1:p.Pro51HisfsTer13
ENST00000543835.5:c.152_153del (C1R)	ENSP00000445285.1:p.Pro51HisfsTer13
ENST00000545466.1:n.205_206del (C1R)
NM_001733.4:c.152_153del (C1R)	NP_001724.3:p.Pro51HisfsTer13
NM_001354346.1:c.194_195del (C1R)	NP_001341275.1:p.Pro65HisfsTer13
NM_001733.6:c.152_153del (C1R)	NP_001724.4:p.Pro51HisfsTer13
NM_001733.7:c.152_153del (C1R) MANE Select	NP_001724.4:p.Pro51HisfsTer13
NM_001354346.2:c.194_195del (C1R)	NP_001341275.1:p.Pro65HisfsTer13