Canonical Allele Identifier: CA2617393827

Gene: C1R C1RL

Linked Data

• gnomAD v4: 12-7091452-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7091452_7091453insCT , CM000674.2:g.7091452_7091453insCT	GRCh38
NC_000012.11:g.7244048_7244049insCT , CM000674.1:g.7244048_7244049insCT	GRCh37
NC_000012.10:g.7135189_7135190insCT	NCBI36
NG_062465.1:g.6155_6156insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.230_231insAG (C1R) MANE Select	ENSP00000497341.1:p.Ile78GlyfsTer?
ENST00000535233.6:c.230_231insAG (C1R)	ENSP00000438636.3:p.Met78GlyfsTer4
ENST00000536053.6:c.272_273insAG (C1R)	ENSP00000444271.3:p.Ile92GlyfsTer?
ENST00000536092.1:n.335_336insAG (C1R)
ENST00000538050.5:c.-86_-85insAG (C1R)	ENSP00000444009.1:n.-86_-85insAG
ENST00000539803.5:c.697_698insAG (C1RL)
ENST00000540242.2:c.230_231insAG (C1R)	ENSP00000442946.1:p.Ile78GlyfsTer?
ENST00000540394.5:n.989_990insAG (C1R)
ENST00000540610.5:c.-85+934_-85+935insAG (C1R)	ENSP00000439223.1:n.-85+934_-85+935insAG
ENST00000541042.5:c.-86_-85insAG (C1R)	ENSP00000441601.1:n.-86_-85insAG
ENST00000542285.5:c.230_231insAG (C1R)	ENSP00000438615.2:p.Ile78GlyfsTer?
ENST00000543362.5:c.230_231insAG (C1R)	ENSP00000446356.1:p.Ile78GlyfsTer?
ENST00000543835.5:c.230_231insAG (C1R)	ENSP00000445285.1:p.Lys78GlyfsTer13
ENST00000545466.1:n.283_284insAG (C1R)
NM_001733.4:c.230_231insAG (C1R)	NP_001724.3:p.Ile78GlyfsTer?
NM_001354346.1:c.272_273insAG (C1R)	NP_001341275.1:p.Ile92GlyfsTer?
NM_001733.6:c.230_231insAG (C1R)	NP_001724.4:p.Ile78GlyfsTer?
NM_001733.7:c.230_231insAG (C1R) MANE Select	NP_001724.4:p.Ile78GlyfsTer?
NM_001354346.2:c.272_273insAG (C1R)	NP_001341275.1:p.Ile92GlyfsTer?