Canonical Allele Identifier: CA2683748888

Gene: CALCR

Linked Data

• gnomAD v4: 7-93426441-A-ATGGCAGATGTAAATTGGGATGTCGCCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426441_93426442insTGGCAGATGTAAATTGGGATGTCGCCAG , CM000669.2:g.93426441_93426442insTGGCAGATGTAAATTGGGATGTCGCCAG	GRCh38
NC_000007.13:g.93055753_93055754insTGGCAGATGTAAATTGGGATGTCGCCAG , CM000669.1:g.93055753_93055754insTGGCAGATGTAAATTGGGATGTCGCCAG	GRCh37
NC_000007.12:g.92893689_92893690insTGGCAGATGTAAATTGGGATGTCGCCAG	NCBI36
NG_013005.1:g.153289_153290insCTGGCGACATCCCAATTTACATCTGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426151.7:c.1339_1340insCTGGCGACATCCCAATTTACATCTGCCA MANE Select	ENSP00000389295.1:p.Leu447ProfsTer13
ENST00000649521.1:c.1387_1388insCTGGCGACATCCCAATTTACATCTGCCA	ENSP00000497687.1:p.Leu463ProfsTer13
ENST00000359558.6:c.1441_1442insCTGGCGACATCCCAATTTACATCTGCCA	ENSP00000352561.2:p.Leu481ProfsTer13
ENST00000360249.8:c.*849_*850insCTGGCGACATCCCAATTTACATCTGCCA	ENSP00000353385.5:n.*849_*850insCTGGCGACA...
ENST00000394441.5:c.1339_1340insCTGGCGACATCCCAATTTACATCTGCCA	ENSP00000377959.1:p.Leu447ProfsTer13
ENST00000415529.2:c.1389_1390insCTGGCGACATCCCAATTTACATCTGCCA	ENSP00000413179.1:n.1389_1390insCTGGCGACA...
ENST00000421592.5:c.1387_1388insCTGGCGACATCCCAATTTACATCTGCCA	ENSP00000399552.1:p.Leu463ProfsTer13
ENST00000423724.5:c.1437_1438insCTGGCGACATCCCAATTTACATCTGCCA	ENSP00000391369.1:n.1437_1438insCTGGCGACA...
ENST00000426151.5:c.1339_1340insCTGGCGACATCCCAATTTACATCTGCCA	ENSP00000389295.1:p.Leu447ProfsTer13
NM_001164737.1:c.1441_1442insCTGGCGACATCCCAATTTACATCTGCCA	NP_001158209.1:p.Leu481ProfsTer13
NM_001164738.1:c.1339_1340insCTGGCGACATCCCAATTTACATCTGCCA	NP_001158210.1:p.Leu447ProfsTer13
NM_001742.3:c.1339_1340insCTGGCGACATCCCAATTTACATCTGCCA	NP_001733.1:p.Leu447ProfsTer13
NM_001164737.2:c.1387_1388insCTGGCGACATCCCAATTTACATCTGCCA	NP_001158209.2:p.Leu463ProfsTer13
NM_001742.4:c.1339_1340insCTGGCGACATCCCAATTTACATCTGCCA MANE Select	NP_001733.1:p.Leu447ProfsTer13
NM_001164737.3:c.1387_1388insCTGGCGACATCCCAATTTACATCTGCCA	NP_001158209.2:p.Leu463ProfsTer13
NM_001164738.2:c.1339_1340insCTGGCGACATCCCAATTTACATCTGCCA	NP_001158210.1:p.Leu447ProfsTer13