Canonical Allele Identifier: CA82747847
Gene: CASR HGNC NCBI

Linked Data

dbSNP Id: rs10533065
gnomAD v2: 3-122000726-CAT-C
gnomAD v3: 3-122281879-CAT-C
gnomAD v4: 3-122281879-CAT-C
COSMIC: COSN20124104
MyVariant Identifiers: chr3:g.122000727_122000728del (hg19) chr3:g.122000727_122000730delinsGT (hg19) chr3:g.122281880_122281881del (hg38) chr3:g.122281880_122281883delinsGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122281880_122281881del , CM000665.2:g.122281880_122281881del GRCh38
NC_000003.11:g.122000727_122000728del , CM000665.1:g.122000727_122000728del GRCh37
NC_000003.10:g.123483417_123483418del NCBI36
NG_009058.1:g.103198_103199del
NG_009058.2:g.103213_103214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1378-233_1378-232del ENSP00000418685.2:n.1378-233_1378-232del
ENST00000498619.4:c.1609-203_1609-202del ENSP00000420194.1:n.1609-203_1609-202del
ENST00000638421.1:c.1609-233_1609-232del ENSP00000492190.1:n.1609-233_1609-232del
ENST00000639785.2:c.1609-233_1609-232del MANE Select ENSP00000491584.2:n.1609-233_1609-232del
ENST00000490131.5:c.1609-233_1609-232del ENSP00000418685.1:n.1609-233_1609-232del
ENST00000498619.2:c.1609-203_1609-202del ENSP00000420194.1:n.1609-203_1609-202del
NM_000388.3:c.1609-233_1609-232del NP_000379.2:n.1609-233_1609-232del
NM_001178065.1:c.1609-203_1609-202del NP_001171536.1:n.1609-203_1609-202del
XM_005247836.2:c.1609-233_1609-232del XP_005247893.1:n.1609-233_1609-232del
XM_005247837.2:c.1126-233_1126-232del XP_005247894.1:n.1126-233_1126-232del
XM_006713789.2:c.1609-233_1609-232del XP_006713852.1:n.1609-233_1609-232del
XM_011513237.1:c.1609-233_1609-232del XP_011511539.1:n.1609-233_1609-232del
XM_011513238.1:c.1609-233_1609-232del XP_011511540.1:n.1609-233_1609-232del
XM_011513239.1:c.1021-233_1021-232del XP_011511541.1:n.1021-233_1021-232del
XM_006713789.3:c.1609-233_1609-232del XP_006713852.1:n.1609-233_1609-232del
XM_017007324.1:c.1609-233_1609-232del XP_016862813.1:n.1609-233_1609-232del
XM_017007325.1:c.1609-233_1609-232del XP_016862814.1:n.1609-233_1609-232del
NM_000388.4:c.1609-233_1609-232del MANE Select NP_000379.3:n.1609-233_1609-232del
NM_001178065.2:c.1609-203_1609-202del NP_001171536.2:n.1609-203_1609-202del
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