Canonical Allele Identifier: CA832041176

Gene: CAV1

Linked Data

• dbSNP Id: rs1435680338
• gnomAD v3: 7-116542740-CTGTT-C
• gnomAD v4: 7-116542740-CTGTT-C
• MyVariant Identifiers: chr7:g.116182795_116182798del (hg19) ; chr7:g.116542741_116542744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116542742_116542745del , CM000669.2:g.116542742_116542745del	GRCh38
NC_000007.13:g.116182796_116182799del , CM000669.1:g.116182796_116182799del	GRCh37
NC_000007.12:g.115970032_115970035del	NCBI36
NG_012051.1:g.22958_22961del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341049.7:c.195+16053_195+16056del MANE Select	ENSP00000339191.2:n.195+16053_195+16056del
ENST00000405348.6:c.102+16053_102+16056del	ENSP00000384348.1:n.102+16053_102+16056del
ENST00000614113.5:c.*25+16053_*25+16056del	ENSP00000479447.2:n.*25+16053_*25+16056del
ENST00000341049.6:c.195+16053_195+16056del	ENSP00000339191.2:n.195+16053_195+16056del
ENST00000393467.1:c.102+16053_102+16056del	ENSP00000377110.1:n.102+16053_102+16056del
ENST00000393468.1:c.102+16053_102+16056del	ENSP00000377111.1:n.102+16053_102+16056del
ENST00000393470.1:c.162+16053_162+16056del	ENSP00000377113.1:n.162+16053_162+16056del
ENST00000405348.5:c.102+16053_102+16056del	ENSP00000384348.1:n.102+16053_102+16056del
ENST00000451122.5:c.*647+16053_*647+16056del	ENSP00000409541.1:n.*647+16053_*647+16056del
ENST00000456473.5:c.102+16053_102+16056del	ENSP00000389033.1:n.102+16053_102+16056del
ENST00000614113.4:c.102+16053_102+16056del	ENSP00000479447.1:n.102+16053_102+16056del
NM_001172895.1:c.102+16053_102+16056del	NP_001166366.1:n.102+16053_102+16056del
NM_001172896.1:c.102+16053_102+16056del	NP_001166367.1:n.102+16053_102+16056del
NM_001172897.1:c.102+16053_102+16056del	NP_001166368.1:n.102+16053_102+16056del
NM_001753.4:c.195+16053_195+16056del	NP_001744.2:n.195+16053_195+16056del
NM_001753.5:c.195+16053_195+16056del MANE Select	NP_001744.2:n.195+16053_195+16056del
NM_001172896.2:c.102+16053_102+16056del	NP_001166367.1:n.102+16053_102+16056del
NM_001172897.2:c.102+16053_102+16056del	NP_001166368.1:n.102+16053_102+16056del