Canonical Allele Identifier: CA5160143

Gene: CAVIN4

Linked Data

• ClinVar Variation Id: 511498
• ClinVar RCV Id: RCV001293220 ; RCV001718943
• dbSNP Id: rs746462546
• ExAC: 9:103348352 AGAGAGGCTGAGACAGTCAGGG / A
• gnomAD v2: 9-103348352-AGAGAGGCTGAGACAGTCAGGG-A
• gnomAD v3: 9-100586070-AGAGAGGCTGAGACAGTCAGGG-A
• gnomAD v4: 9-100586070-AGAGAGGCTGAGACAGTCAGGG-A
• MyVariant Identifiers: chr9:g.103348380_103348400del (hg19) ; chr9:g.103348353_103348373del (hg19) ; chr9:g.100586098_100586118del (hg38) ; chr9:g.100586071_100586091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100586098_100586118del , CM000671.2:g.100586098_100586118del	GRCh38
NC_000009.11:g.103348380_103348400del , CM000671.1:g.103348380_103348400del	GRCh37
NC_000009.10:g.102388201_102388221del	NCBI36
NG_033273.1:g.13020_13040del , LRG_760:g.13020_13040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307584.6:c.742_762del MANE Select	ENSP00000418668.1:p.Leu248_Arg254del
ENST00000307584.5:c.742_762del	ENSP00000418668.1:p.Leu248_Arg254del
NM_001018116.2:c.742_762del , LRG_760t1:c.742_762del MANE Select	NP_001018126.1:p.Leu248_Arg254del
XM_011518631.1:c.718_738del	XP_011516933.1:p.Leu240_Arg246del
XM_011518632.1:c.355_375del	XP_011516934.1:p.Leu119_Arg125del