Canonical Allele Identifier: CA1397885682
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122281881_122281884delinsTGTG , CM000665.2:g.122281881_122281884delinsTGTG GRCh38
NC_000003.11:g.122000728_122000731delinsTGTG , CM000665.1:g.122000728_122000731delinsTGTG GRCh37
NC_000003.10:g.123483418_123483421delinsTGTG NCBI36
NG_009058.1:g.103199_103202delinsTGTG
NG_009058.2:g.103214_103217delinsTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1378-232_1378-229delinsTGTG ENSP00000418685.2:n.1378-232_1378-229delinsTGTG
ENST00000498619.4:c.1609-202_1609-199delinsTGTG ENSP00000420194.1:n.1609-202_1609-199delinsTGTG
ENST00000638421.1:c.1609-232_1609-229delinsTGTG ENSP00000492190.1:n.1609-232_1609-229delinsTGTG
ENST00000639785.2:c.1609-232_1609-229delinsTGTG MANE Select ENSP00000491584.2:n.1609-232_1609-229delinsTGTG
ENST00000490131.5:c.1609-232_1609-229delinsTGTG ENSP00000418685.1:n.1609-232_1609-229delinsTGTG
ENST00000498619.2:c.1609-202_1609-199delinsTGTG ENSP00000420194.1:n.1609-202_1609-199delinsTGTG
NM_000388.3:c.1609-232_1609-229delinsTGTG NP_000379.2:n.1609-232_1609-229delinsTGTG
NM_001178065.1:c.1609-202_1609-199delinsTGTG NP_001171536.1:n.1609-202_1609-199delinsTGTG
XM_005247836.2:c.1609-232_1609-229delinsTGTG XP_005247893.1:n.1609-232_1609-229delinsTGTG
XM_005247837.2:c.1126-232_1126-229delinsTGTG XP_005247894.1:n.1126-232_1126-229delinsTGTG
XM_006713789.2:c.1609-232_1609-229delinsTGTG XP_006713852.1:n.1609-232_1609-229delinsTGTG
XM_011513237.1:c.1609-232_1609-229delinsTGTG XP_011511539.1:n.1609-232_1609-229delinsTGTG
XM_011513238.1:c.1609-232_1609-229delinsTGTG XP_011511540.1:n.1609-232_1609-229delinsTGTG
XM_011513239.1:c.1021-232_1021-229delinsTGTG XP_011511541.1:n.1021-232_1021-229delinsTGTG
XM_006713789.3:c.1609-232_1609-229delinsTGTG XP_006713852.1:n.1609-232_1609-229delinsTGTG
XM_017007324.1:c.1609-232_1609-229delinsTGTG XP_016862813.1:n.1609-232_1609-229delinsTGTG
XM_017007325.1:c.1609-232_1609-229delinsTGTG XP_016862814.1:n.1609-232_1609-229delinsTGTG
NM_000388.4:c.1609-232_1609-229delinsTGTG MANE Select NP_000379.3:n.1609-232_1609-229delinsTGTG
NM_001178065.2:c.1609-202_1609-199delinsTGTG NP_001171536.2:n.1609-202_1609-199delinsTGTG