Canonical Allele Identifier: CA165438963

Gene: CAV1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116559628del , CM000669.2:g.116559628del	GRCh38
NC_000007.13:g.116199682del , CM000669.1:g.116199682del	GRCh37
NC_000007.12:g.115986918del	NCBI36
NG_012051.1:g.39844del

Transcript Alleles

HGVS	Amino-acid Change
NM_001753.5:c.*341del MANE Select	NP_001744.2:n.*341del
ENST00000341049.7:c.*341del MANE Select	ENSP00000339191.2:n.*341del
NM_001172895.1:c.*341del	NP_001166366.1:n.*341del
NM_001172896.1:c.*341del	NP_001166367.1:n.*341del
NM_001172896.2:c.*341del	NP_001166367.1:n.*341del
NM_001172897.1:c.*341del	NP_001166368.1:n.*341del
NM_001172897.2:c.*341del	NP_001166368.1:n.*341del
NM_001753.4:c.*341del	NP_001744.2:n.*341del
ENST00000341049.6:c.*341del	ENSP00000339191.2:n.*341del
ENST00000393467.1:c.*341del	ENSP00000377110.1:n.*341del
ENST00000405348.5:c.*341del	ENSP00000384348.1:n.*341del
ENST00000405348.6:c.*341del	ENSP00000384348.1:n.*341del
ENST00000451122.5:c.*1330del	ENSP00000409541.1:n.*1330del
ENST00000614113.4:c.*341del	ENSP00000479447.1:n.*341del
ENST00000614113.5:c.*708del	ENSP00000479447.2:n.*708del