Canonical Allele Identifier: CA10654651

Gene: CASR

Linked Data

• ClinVar Variation Id: 369382
• ClinVar RCV Id: RCV000310837 ; RCV000314365 ; RCV000345882 ; RCV000395625
• dbSNP Id: rs537119483
• gnomAD v2: 3-121902522-AC-A
• gnomAD v3: 3-122183675-AC-A
• gnomAD v4: 3-122183675-AC-A
• MyVariant Identifiers: chr3:g.121902523del (hg19) ; chr3:g.122183676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122183677del , CM000665.2:g.122183677del	GRCh38
NC_000003.11:g.121902524del , CM000665.1:g.121902524del	GRCh37
NC_000003.10:g.123385214del	NCBI36
NG_009058.1:g.4995del
NG_009058.2:g.5010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639785.2:c.-378del MANE Select	ENSP00000491584.2:n.-378del
XM_011513238.1:c.-2398del	XP_011511540.1:n.-2398del
NM_000388.4:c.-378del MANE Select	NP_000379.3:n.-378del