Canonical Allele Identifier: CA4345292

Gene: CALCR

Linked Data

• dbSNP Id: rs749162373
• ExAC: 7:93055835 GCCTCCC / G
• gnomAD v2: 7-93055835-GCCTCCC-G
• gnomAD v3: 7-93426523-GCCTCCC-G
• gnomAD v4: 7-93426523-GCCTCCC-G
• MyVariant Identifiers: chr7:g.93055836_93055841del (hg19) ; chr7:g.93426524_93426529del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426526_93426531del , CM000669.2:g.93426526_93426531del	GRCh38
NC_000007.13:g.93055838_93055843del , CM000669.1:g.93055838_93055843del	GRCh37
NC_000007.12:g.92893774_92893779del	NCBI36
NG_013005.1:g.153202_153207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1252_1257del MANE Select	ENSP00000389295.1:p.Gly418_Arg419del
ENST00000649521.1:c.1300_1305del	ENSP00000497687.1:p.Gly434_Arg435del
ENST00000359558.6:c.1354_1359del	ENSP00000352561.2:p.Gly452_Arg453del
ENST00000360249.8:c.*762_*767del	ENSP00000353385.5:n.*762_*767del
ENST00000394441.5:c.1252_1257del	ENSP00000377959.1:p.Gly418_Arg419del
ENST00000415529.2:c.1302_1307del	ENSP00000413179.1:n.1302_1307del
ENST00000421592.5:c.1300_1305del	ENSP00000399552.1:p.Gly434_Arg435del
ENST00000423724.5:c.1350_1355del	ENSP00000391369.1:n.1350_1355del
ENST00000426151.5:c.1252_1257del	ENSP00000389295.1:p.Gly418_Arg419del
NM_001164737.1:c.1354_1359del	NP_001158209.1:p.Gly452_Arg453del
NM_001164738.1:c.1252_1257del	NP_001158210.1:p.Gly418_Arg419del
NM_001742.3:c.1252_1257del	NP_001733.1:p.Gly418_Arg419del
NM_001164737.2:c.1300_1305del	NP_001158209.2:p.Gly434_Arg435del
NM_001742.4:c.1252_1257del MANE Select	NP_001733.1:p.Gly418_Arg419del
NM_001164737.3:c.1300_1305del	NP_001158209.2:p.Gly434_Arg435del
NM_001164738.2:c.1252_1257del	NP_001158210.1:p.Gly418_Arg419del