Canonical Allele Identifier: CA1736907477
Gene: CAV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116542740_116542744delinsCTGTT , CM000669.2:g.116542740_116542744delinsCTGTT GRCh38
NC_000007.13:g.116182794_116182798delinsCTGTT , CM000669.1:g.116182794_116182798delinsCTGTT GRCh37
NC_000007.12:g.115970030_115970034delinsCTGTT NCBI36
NG_012051.1:g.22956_22960delinsCTGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000341049.7:c.195+16051_195+16055delinsCTGTT MANE Select ENSP00000339191.2:n.195+16051_195+16055de...
ENST00000405348.6:c.102+16051_102+16055delinsCTGTT ENSP00000384348.1:n.102+16051_102+16055de...
ENST00000614113.5:c.*25+16051_*25+16055delinsCTGTT ENSP00000479447.2:n.*25+16051_*25+16055de...
ENST00000341049.6:c.195+16051_195+16055delinsCTGTT ENSP00000339191.2:n.195+16051_195+16055de...
ENST00000393467.1:c.102+16051_102+16055delinsCTGTT ENSP00000377110.1:n.102+16051_102+16055de...
ENST00000393468.1:c.102+16051_102+16055delinsCTGTT ENSP00000377111.1:n.102+16051_102+16055de...
ENST00000393470.1:c.162+16051_162+16055delinsCTGTT ENSP00000377113.1:n.162+16051_162+16055de...
ENST00000405348.5:c.102+16051_102+16055delinsCTGTT ENSP00000384348.1:n.102+16051_102+16055de...
ENST00000451122.5:c.*647+16051_*647+16055delinsCTGTT ENSP00000409541.1:n.*647+16051_*647+16055...
ENST00000456473.5:c.102+16051_102+16055delinsCTGTT ENSP00000389033.1:n.102+16051_102+16055de...
ENST00000614113.4:c.102+16051_102+16055delinsCTGTT ENSP00000479447.1:n.102+16051_102+16055de...
NM_001172895.1:c.102+16051_102+16055delinsCTGTT NP_001166366.1:n.102+16051_102+16055delin...
NM_001172896.1:c.102+16051_102+16055delinsCTGTT NP_001166367.1:n.102+16051_102+16055delin...
NM_001172897.1:c.102+16051_102+16055delinsCTGTT NP_001166368.1:n.102+16051_102+16055delin...
NM_001753.4:c.195+16051_195+16055delinsCTGTT NP_001744.2:n.195+16051_195+16055delinsCT...
NM_001753.5:c.195+16051_195+16055delinsCTGTT MANE Select NP_001744.2:n.195+16051_195+16055delinsCT...
NM_001172896.2:c.102+16051_102+16055delinsCTGTT NP_001166367.1:n.102+16051_102+16055delin...
NM_001172897.2:c.102+16051_102+16055delinsCTGTT NP_001166368.1:n.102+16051_102+16055delin...