Canonical Allele Identifier: CA472908937

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1846787118
• gnomAD v3: 11-6319670-GTC-G
• gnomAD v4: 11-6319670-GTC-G
• MyVariant Identifiers: chr11:g.6340901_6340902del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319672_6319673del , CM000673.2:g.6319672_6319673del	GRCh38
NC_000011.9:g.6340902_6340903del , CM000673.1:g.6340902_6340903del	GRCh37
NC_000011.8:g.6297478_6297479del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-108_385-107del MANE Select	ENSP00000307292.3:n.385-108_385-107del
ENST00000303927.3:c.385-108_385-107del	ENSP00000307292.3:n.385-108_385-107del
ENST00000524852.1:n.64-1_64del
ENST00000530979.1:c.465_466del	ENSP00000432047.1:p.Gln155HisfsTer9
ENST00000532354.1:n.391_392del
NM_145040.2:c.385-108_385-107del	NP_659477.2:n.385-108_385-107del
XR_242848.3:n.111_112del
XR_242849.3:n.111_112del
XR_428874.2:n.111_112del
XR_930992.1:n.111_112del
XR_930994.1:n.111_112del
XR_930995.1:n.111_112del
XR_930996.1:n.111_112del
XR_930997.1:n.720+1452_720+1453del
XR_930998.1:n.111_112del
XR_930999.1:n.111_112del
XR_001748105.2:n.130_131del
XR_001748106.1:n.283_284del
XR_001748108.2:n.130_131del
XR_001748109.2:n.139_140del
XR_242848.4:n.532_533del
XR_930992.3:n.130_131del
XR_930994.3:n.130_131del
XR_930995.3:n.130_131del
XR_930998.3:n.130_131del
NM_145040.3:c.385-108_385-107del MANE Select	NP_659477.2:n.385-108_385-107del