Canonical Allele Identifier: CA162017945

Gene: CALCR

Linked Data

• dbSNP Id: rs994710524
• gnomAD v2: 7-93055813-CG-C
• gnomAD v4: 7-93426501-CG-C
• MyVariant Identifiers: chr7:g.93055814del (hg19) ; chr7:g.93426502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426502del , CM000669.2:g.93426502del	GRCh38
NC_000007.13:g.93055814del , CM000669.1:g.93055814del	GRCh37
NC_000007.12:g.92893750del	NCBI36
NG_013005.1:g.153229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1279del MANE Select	ENSP00000389295.1:p.Arg427AlafsTer21
ENST00000649521.1:c.1327del	ENSP00000497687.1:p.Arg443AlafsTer21
ENST00000359558.6:c.1381del	ENSP00000352561.2:p.Arg461AlafsTer21
ENST00000360249.8:c.*789del	ENSP00000353385.5:n.*789del
ENST00000394441.5:c.1279del	ENSP00000377959.1:p.Arg427AlafsTer21
ENST00000415529.2:c.1329del	ENSP00000413179.1:n.1329del
ENST00000421592.5:c.1327del	ENSP00000399552.1:p.Arg443AlafsTer21
ENST00000423724.5:c.1377del	ENSP00000391369.1:n.1377del
ENST00000426151.5:c.1279del	ENSP00000389295.1:p.Arg427AlafsTer21
NM_001164737.1:c.1381del	NP_001158209.1:p.Arg461AlafsTer21
NM_001164738.1:c.1279del	NP_001158210.1:p.Arg427AlafsTer21
NM_001742.3:c.1279del	NP_001733.1:p.Arg427AlafsTer21
NM_001164737.2:c.1327del	NP_001158209.2:p.Arg443AlafsTer21
NM_001742.4:c.1279del MANE Select	NP_001733.1:p.Arg427AlafsTer21
NM_001164737.3:c.1327del	NP_001158209.2:p.Arg443AlafsTer21
NM_001164738.2:c.1279del	NP_001158210.1:p.Arg427AlafsTer21