Canonical Allele Identifier: CA82747857
Gene: CASR HGNC NCBI

Linked Data

dbSNP Id: rs932297836
gnomAD v2: 3-122000727-A-ATG
gnomAD v3: 3-122281880-A-ATG
gnomAD v4: 3-122281880-A-ATG
MyVariant Identifiers: chr3:g.122000731_122000732insTG (hg19) chr3:g.122000727_122000728insTG (hg19) chr3:g.122281884_122281885insTG (hg38) chr3:g.122281880_122281881insTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122281895_122281896dup , CM000665.2:g.122281895_122281896dup GRCh38
NC_000003.11:g.122000742_122000743dup , CM000665.1:g.122000742_122000743dup GRCh37
NC_000003.10:g.123483432_123483433dup NCBI36
NG_009058.1:g.103213_103214dup
NG_009058.2:g.103228_103229dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1378-218_1378-217dup ENSP00000418685.2:n.1378-218_1378-217dup
ENST00000498619.4:c.1609-188_1609-187dup ENSP00000420194.1:n.1609-188_1609-187dup
ENST00000638421.1:c.1609-218_1609-217dup ENSP00000492190.1:n.1609-218_1609-217dup
ENST00000639785.2:c.1609-218_1609-217dup MANE Select ENSP00000491584.2:n.1609-218_1609-217dup
ENST00000490131.5:c.1609-218_1609-217dup ENSP00000418685.1:n.1609-218_1609-217dup
ENST00000498619.2:c.1609-188_1609-187dup ENSP00000420194.1:n.1609-188_1609-187dup
NM_000388.3:c.1609-218_1609-217dup NP_000379.2:n.1609-218_1609-217dup
NM_001178065.1:c.1609-188_1609-187dup NP_001171536.1:n.1609-188_1609-187dup
XM_005247836.2:c.1609-218_1609-217dup XP_005247893.1:n.1609-218_1609-217dup
XM_005247837.2:c.1126-218_1126-217dup XP_005247894.1:n.1126-218_1126-217dup
XM_006713789.2:c.1609-218_1609-217dup XP_006713852.1:n.1609-218_1609-217dup
XM_011513237.1:c.1609-218_1609-217dup XP_011511539.1:n.1609-218_1609-217dup
XM_011513238.1:c.1609-218_1609-217dup XP_011511540.1:n.1609-218_1609-217dup
XM_011513239.1:c.1021-218_1021-217dup XP_011511541.1:n.1021-218_1021-217dup
XM_006713789.3:c.1609-218_1609-217dup XP_006713852.1:n.1609-218_1609-217dup
XM_017007324.1:c.1609-218_1609-217dup XP_016862813.1:n.1609-218_1609-217dup
XM_017007325.1:c.1609-218_1609-217dup XP_016862814.1:n.1609-218_1609-217dup
NM_000388.4:c.1609-218_1609-217dup MANE Select NP_000379.3:n.1609-218_1609-217dup
NM_001178065.2:c.1609-188_1609-187dup NP_001171536.2:n.1609-188_1609-187dup
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