Canonical Allele Identifier: CA2740094578

Gene: CASR

Linked Data

• ClinVar Variation Id: 2942478
• ClinVar RCV Id: RCV003805692

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284842_122285665del , CM000665.2:g.122284842_122285665del	GRCh38
NC_000003.11:g.122003689_122004512del , CM000665.1:g.122003689_122004512del	GRCh37
NC_000003.10:g.123486379_123487202del	NCBI36
NG_009058.2:g.106175_106998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2657_*474del	ENSP00000418685.2:n.[c.2657_*474del;Lys886ThrfsTer5]
ENST00000498619.4:c.2918_*474del	ENSP00000420194.1:n.[c.2918_*474del;Lys973ThrfsTer5]
ENST00000638421.1:c.2888_*474del	ENSP00000492190.1:n.[c.2888_*474del;Lys963ThrfsTer5]
ENST00000639785.2:c.2888_*474del MANE Select	ENSP00000491584.2:n.[c.2888_*474del;Lys963ThrfsTer5]
ENST00000498619.2:c.2918_*474del	ENSP00000420194.1:n.[c.2918_*474del;Lys973ThrfsTer5]
XM_005247836.2:c.2888_*474del	XP_005247893.1:n.[c.2888_*474del;Lys963ThrfsTer5]
XM_005247837.2:c.2405_*474del	XP_005247894.1:n.[c.2405_*474del;Lys802ThrfsTer5]
XM_006713789.2:c.2888_*474del	XP_006713852.1:n.[c.2888_*474del;Lys963ThrfsTer5]
XM_011513237.1:c.2888_*474del	XP_011511539.1:n.[c.2888_*474del;Lys963ThrfsTer5]
XM_011513238.1:c.2888_*474del	XP_011511540.1:n.[c.2888_*474del;Lys963ThrfsTer5]
XM_011513239.1:c.2300_*474del	XP_011511541.1:n.[c.2300_*474del;Lys767ThrfsTer5]
XM_006713789.3:c.2888_*474del	XP_006713852.1:n.[c.2888_*474del;Lys963ThrfsTer5]
XM_017007324.1:c.2888_*474del	XP_016862813.1:n.[c.2888_*474del;Lys963ThrfsTer5]
XM_017007325.1:c.2888_*474del	XP_016862814.1:n.[c.2888_*474del;Lys963ThrfsTer5]
NM_000388.4:c.2888_*474del MANE Select	NP_000379.3:n.[c.2888_*474del;Lys963ThrfsTer5]
NM_001178065.2:c.2918_*474del	NP_001171536.2:n.[c.2918_*474del;Lys973ThrfsTer5]