Canonical Allele Identifier: CA2573136469

Gene: CASR

Linked Data

• ClinVar Variation Id: 1439965
• ClinVar RCV Id: RCV001965442
• dbSNP Id: rs2107651905

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285042dup , CM000665.2:g.122285042dup	GRCh38
NC_000003.11:g.122003889dup , CM000665.1:g.122003889dup	GRCh37
NC_000003.10:g.123486579dup	NCBI36
NG_009058.1:g.106360dup
NG_009058.2:g.106375dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2857dup	ENSP00000418685.2:p.Thr953AsnfsTer19
ENST00000498619.4:c.3118dup	ENSP00000420194.1:p.Thr1040AsnfsTer19
ENST00000638421.1:c.3088dup	ENSP00000492190.1:p.Thr1030AsnfsTer19
ENST00000639785.2:c.3088dup MANE Select	ENSP00000491584.2:p.Thr1030AsnfsTer19
ENST00000490131.5:c.3088dup	ENSP00000418685.1:p.Thr1030AsnfsTer19
ENST00000498619.2:c.3118dup	ENSP00000420194.1:p.Thr1040AsnfsTer19
NM_000388.3:c.3088dup	NP_000379.2:p.Thr1030AsnfsTer19
NM_001178065.1:c.3118dup	NP_001171536.1:p.Thr1040AsnfsTer19
XM_005247836.2:c.3088dup	XP_005247893.1:p.Thr1030AsnfsTer19
XM_005247837.2:c.2605dup	XP_005247894.1:p.Thr869AsnfsTer19
XM_006713789.2:c.3088dup	XP_006713852.1:p.Thr1030AsnfsTer19
XM_011513237.1:c.3088dup	XP_011511539.1:p.Thr1030AsnfsTer19
XM_011513238.1:c.3088dup	XP_011511540.1:p.Thr1030AsnfsTer19
XM_011513239.1:c.2500dup	XP_011511541.1:p.Thr834AsnfsTer19
XM_006713789.3:c.3088dup	XP_006713852.1:p.Thr1030AsnfsTer19
XM_017007324.1:c.3088dup	XP_016862813.1:p.Thr1030AsnfsTer19
XM_017007325.1:c.3088dup	XP_016862814.1:p.Thr1030AsnfsTer19
NM_000388.4:c.3088dup MANE Select	NP_000379.3:p.Thr1030AsnfsTer19
NM_001178065.2:c.3118dup	NP_001171536.2:p.Thr1040AsnfsTer19