Canonical Allele Identifier: CA5160140

Gene: CAVIN4

Linked Data

• ClinVar Variation Id: 1191217
• ClinVar RCV Id: RCV001552202
• dbSNP Id: rs777590435
• ExAC: 9:103348343 GCAGTCAGGAGAGAGGCTGAGA / G
• gnomAD v2: 9-103348343-GCAGTCAGGAGAGAGGCTGAGA-G
• gnomAD v3: 9-100586061-GCAGTCAGGAGAGAGGCTGAGA-G
• gnomAD v4: 9-100586061-GCAGTCAGGAGAGAGGCTGAGA-G
• MyVariant Identifiers: chr9:g.103348344_103348364del (hg19) ; chr9:g.100586063_100586083del (hg38) ; chr9:g.100586062_100586082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100586070_100586090del , CM000671.2:g.100586070_100586090del	GRCh38
NC_000009.11:g.103348352_103348372del , CM000671.1:g.103348352_103348372del	GRCh37
NC_000009.10:g.102388173_102388193del	NCBI36
NG_033273.1:g.12992_13012del , LRG_760:g.12992_13012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307584.6:c.714_734del MANE Select	ENSP00000418668.1:p.Glu239_Gly245del
ENST00000307584.5:c.714_734del	ENSP00000418668.1:p.Glu239_Gly245del
NM_001018116.2:c.714_734del , LRG_760t1:c.714_734del MANE Select	NP_001018126.1:p.Glu239_Gly245del
XM_011518631.1:c.690_710del	XP_011516933.1:p.Glu231_Gly237del
XM_011518632.1:c.327_347del	XP_011516934.1:p.Glu110_Gly116del