Canonical Allele Identifier: CA2603527098

Gene: CAV1

Linked Data

• dbSNP Id: rs2116046372
• gnomAD v3: 7-116547079-CCATCTT-C
• gnomAD v4: 7-116547079-CCATCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116547083_116547088del , CM000669.2:g.116547083_116547088del	GRCh38
NC_000007.13:g.116187137_116187142del , CM000669.1:g.116187137_116187142del	GRCh37
NC_000007.12:g.115974373_115974378del	NCBI36
NG_012051.1:g.27299_27304del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341049.7:c.196-11863_196-11858del MANE Select	ENSP00000339191.2:n.196-11863_196-11858del
ENST00000405348.6:c.103-11863_103-11858del	ENSP00000384348.1:n.103-11863_103-11858del
ENST00000614113.5:c.*26-11863_*26-11858del	ENSP00000479447.2:n.*26-11863_*26-11858del
ENST00000341049.6:c.196-11863_196-11858del	ENSP00000339191.2:n.196-11863_196-11858del
ENST00000393467.1:c.103-11863_103-11858del	ENSP00000377110.1:n.103-11863_103-11858del
ENST00000393468.1:c.103-11863_103-11858del	ENSP00000377111.1:n.103-11863_103-11858del
ENST00000393470.1:c.163-11863_163-11858del	ENSP00000377113.1:n.163-11863_163-11858del
ENST00000405348.5:c.103-11863_103-11858del	ENSP00000384348.1:n.103-11863_103-11858del
ENST00000451122.5:c.*648-11863_*648-11858del	ENSP00000409541.1:n.*648-11863_*648-11858del
ENST00000456473.5:c.103-11863_103-11858del	ENSP00000389033.1:n.103-11863_103-11858del
ENST00000614113.4:c.103-11863_103-11858del	ENSP00000479447.1:n.103-11863_103-11858del
NM_001172895.1:c.103-11863_103-11858del	NP_001166366.1:n.103-11863_103-11858del
NM_001172896.1:c.103-11863_103-11858del	NP_001166367.1:n.103-11863_103-11858del
NM_001172897.1:c.103-11863_103-11858del	NP_001166368.1:n.103-11863_103-11858del
NM_001753.4:c.196-11863_196-11858del	NP_001744.2:n.196-11863_196-11858del
NM_001753.5:c.196-11863_196-11858del MANE Select	NP_001744.2:n.196-11863_196-11858del
NM_001172896.2:c.103-11863_103-11858del	NP_001166367.1:n.103-11863_103-11858del
NM_001172897.2:c.103-11863_103-11858del	NP_001166368.1:n.103-11863_103-11858del