Canonical Allele Identifier: CA843978422

Gene: CALCR

Linked Data

• dbSNP Id: rs1451098740
• gnomAD v3: 7-93426474-C-CCAGCCTCCGCAG
• gnomAD v4: 7-93426474-C-CCAGCCTCCGCAG
• MyVariant Identifiers: chr7:g.93055786_93055787insCAGCCTCCGCAG (hg19) ; chr7:g.93426474_93426475insCAGCCTCCGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426479_93426490dup , CM000669.2:g.93426479_93426490dup	GRCh38
NC_000007.13:g.93055791_93055802dup , CM000669.1:g.93055791_93055802dup	GRCh37
NC_000007.12:g.92893727_92893738dup	NCBI36
NG_013005.1:g.153245_153256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1295_1306dup MANE Select	ENSP00000389295.1:p.Ala435_Gly436insAlaAlaGluAla
ENST00000649521.1:c.1343_1354dup	ENSP00000497687.1:p.Ala451_Gly452insAlaAlaGluAla
ENST00000359558.6:c.1397_1408dup	ENSP00000352561.2:p.Ala469_Gly470insAlaAlaGluAla
ENST00000360249.8:c.*805_*816dup	ENSP00000353385.5:n.*805_*816dup
ENST00000394441.5:c.1295_1306dup	ENSP00000377959.1:p.Ala435_Gly436insAlaAlaGluAla
ENST00000415529.2:c.1345_1356dup	ENSP00000413179.1:n.1345_1356dup
ENST00000421592.5:c.1343_1354dup	ENSP00000399552.1:p.Ala451_Gly452insAlaAlaGluAla
ENST00000423724.5:c.1393_1404dup	ENSP00000391369.1:n.1393_1404dup
ENST00000426151.5:c.1295_1306dup	ENSP00000389295.1:p.Ala435_Gly436insAlaAlaGluAla
NM_001164737.1:c.1397_1408dup	NP_001158209.1:p.Ala469_Gly470insAlaAlaGluAla
NM_001164738.1:c.1295_1306dup	NP_001158210.1:p.Ala435_Gly436insAlaAlaGluAla
NM_001742.3:c.1295_1306dup	NP_001733.1:p.Ala435_Gly436insAlaAlaGluAla
NM_001164737.2:c.1343_1354dup	NP_001158209.2:p.Ala451_Gly452insAlaAlaGluAla
NM_001742.4:c.1295_1306dup MANE Select	NP_001733.1:p.Ala435_Gly436insAlaAlaGluAla
NM_001164737.3:c.1343_1354dup	NP_001158209.2:p.Ala451_Gly452insAlaAlaGluAla
NM_001164738.2:c.1295_1306dup	NP_001158210.1:p.Ala435_Gly436insAlaAlaGluAla