Canonical Allele Identifier: CA2758179402
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122281860_122281863del , CM000665.2:g.122281860_122281863del GRCh38
NC_000003.11:g.122000707_122000710del , CM000665.1:g.122000707_122000710del GRCh37
NC_000003.10:g.123483397_123483400del NCBI36
NG_009058.1:g.103178_103181del
NG_009058.2:g.103193_103196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1378-253_1378-250del ENSP00000418685.2:n.1378-253_1378-250del
ENST00000498619.4:c.1609-223_1609-220del ENSP00000420194.1:n.1609-223_1609-220del
ENST00000638421.1:c.1609-253_1609-250del ENSP00000492190.1:n.1609-253_1609-250del
ENST00000639785.2:c.1609-253_1609-250del MANE Select ENSP00000491584.2:n.1609-253_1609-250del
ENST00000490131.5:c.1609-253_1609-250del ENSP00000418685.1:n.1609-253_1609-250del
ENST00000498619.2:c.1609-223_1609-220del ENSP00000420194.1:n.1609-223_1609-220del
NM_000388.3:c.1609-253_1609-250del NP_000379.2:n.1609-253_1609-250del
NM_001178065.1:c.1609-223_1609-220del NP_001171536.1:n.1609-223_1609-220del
XM_005247836.2:c.1609-253_1609-250del XP_005247893.1:n.1609-253_1609-250del
XM_005247837.2:c.1126-253_1126-250del XP_005247894.1:n.1126-253_1126-250del
XM_006713789.2:c.1609-253_1609-250del XP_006713852.1:n.1609-253_1609-250del
XM_011513237.1:c.1609-253_1609-250del XP_011511539.1:n.1609-253_1609-250del
XM_011513238.1:c.1609-253_1609-250del XP_011511540.1:n.1609-253_1609-250del
XM_011513239.1:c.1021-253_1021-250del XP_011511541.1:n.1021-253_1021-250del
XM_006713789.3:c.1609-253_1609-250del XP_006713852.1:n.1609-253_1609-250del
XM_017007324.1:c.1609-253_1609-250del XP_016862813.1:n.1609-253_1609-250del
XM_017007325.1:c.1609-253_1609-250del XP_016862814.1:n.1609-253_1609-250del
NM_000388.4:c.1609-253_1609-250del MANE Select NP_000379.3:n.1609-253_1609-250del
NM_001178065.2:c.1609-223_1609-220del NP_001171536.2:n.1609-223_1609-220del