Canonical Allele Identifier: CA576707021

Gene: CALCR

Linked Data

• dbSNP Id: rs1251348026
• gnomAD v2: 7-93055828-GA-G
• gnomAD v3: 7-93426516-GA-G
• gnomAD v4: 7-93426516-GA-G
• MyVariant Identifiers: chr7:g.93055829del (hg19) ; chr7:g.93426517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426517del , CM000669.2:g.93426517del	GRCh38
NC_000007.13:g.93055829del , CM000669.1:g.93055829del	GRCh37
NC_000007.12:g.92893765del	NCBI36
NG_013005.1:g.153214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1264del MANE Select	ENSP00000389295.1:p.Ser422ProfsTer26
ENST00000649521.1:c.1312del	ENSP00000497687.1:p.Ser438ProfsTer26
ENST00000359558.6:c.1366del	ENSP00000352561.2:p.Ser456ProfsTer26
ENST00000360249.8:c.*774del	ENSP00000353385.5:n.*774del
ENST00000394441.5:c.1264del	ENSP00000377959.1:p.Ser422ProfsTer26
ENST00000415529.2:c.1314del	ENSP00000413179.1:n.1314del
ENST00000421592.5:c.1312del	ENSP00000399552.1:p.Ser438ProfsTer26
ENST00000423724.5:c.1362del	ENSP00000391369.1:n.1362del
ENST00000426151.5:c.1264del	ENSP00000389295.1:p.Ser422ProfsTer26
NM_001164737.1:c.1366del	NP_001158209.1:p.Ser456ProfsTer26
NM_001164738.1:c.1264del	NP_001158210.1:p.Ser422ProfsTer26
NM_001742.3:c.1264del	NP_001733.1:p.Ser422ProfsTer26
NM_001164737.2:c.1312del	NP_001158209.2:p.Ser438ProfsTer26
NM_001742.4:c.1264del MANE Select	NP_001733.1:p.Ser422ProfsTer26
NM_001164737.3:c.1312del	NP_001158209.2:p.Ser438ProfsTer26
NM_001164738.2:c.1264del	NP_001158210.1:p.Ser422ProfsTer26